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- [1] Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderGENETICS IN MEDICINE, 2022, 24 (08) : 1774 - 1780论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Isidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceStegmann, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan Jaarsveld, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan Gassen, Koen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, Francevan der Smagt, Jasper J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVolker-Touw, Catharina M. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceHolwerda, Sjoerd J. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceTerhal, Paulien A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSchuhmann, Sarah论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVasileiou, Georgia论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg FAU, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceKhalifa, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Latifa Women & Children Hosp, Genet Dept, Dubai Hlth Author, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceNugud, Alaa A.论文数: 0 引用数: 0 h-index: 0机构: Latifa Women & Children Hosp, Genet Dept, Dubai Hlth Author, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceYasaei, Hemad论文数: 0 引用数: 0 h-index: 0机构: Dubai Hlth Author, Dubai Genet Ctr, Pathol & Genet Dept, Dubai, U Arab Emirates Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceOusager, Lilian Bomme论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Odense Univ Hosp, Dept Clin Genet & Human Genet, Odense, Denmark Univ Southern Denmark, Odense Univ Hosp, Dept Clin Res, Odense, Denmark Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBrasch-Andersen, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Southern Denmark, Odense Univ Hosp, Dept Clin Genet & Human Genet, Odense, Denmark Univ Southern Denmark, Odense Univ Hosp, Dept Clin Res, Odense, Denmark Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDeb, Wallid论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France论文数: 引用数: h-index:机构:Simon, Marleen E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceHuijsdens-van Amsterdam, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVerbeek, Nienke E.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceMatalon, Dena论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDykzeul, Natalie论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceWhite, Shana论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSpiteri, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ & Hlth Care, Dept Pediat, Div Med Genet, Palo Alto, CA USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDevriendt, Koen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Leuven, O&N I Herestr 49, Leuven, Belgium Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBoogaerts, Anneleen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Ctr Human Genet, Univ Hosp Leuven, O&N I Herestr 49, Leuven, Belgium Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceWillemsen, Marjolein论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceSinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDe Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceGerkes, Erica H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceKrantz, Ian D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceXu, Zhou L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceMurrell, Jill R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceCusco, Ivon论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceRovira-Moreno, Eulalia论文数: 0 引用数: 0 h-index: 0机构: Hosp Valle De Hebron, Dept Clin & Mol Genet, Barcelona, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: AiLife Diagnost, Pearland, TX USA Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBizaoui, Varoona论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Estran, Clin Genet & Neurodev Disorders, Pontorson, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePatat, Olivier论文数: 0 引用数: 0 h-index: 0机构: Toulouse Univ Hosp, Dept Med Genet, Toulouse, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, GAD, FHU TRANSLAD, Dijon, France Univ Bourgogne, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceTran-Mau-Them, Frederic论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FrancePhilippe, Christophe论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Bourgogne, GAD, Inserm UMR1231, Dijon, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, FranceBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France Univ Nantes, Inst Thorax, Inserm UMR 1087, CNRS UMR 6291, Nantes, France Ctr Hosp Univ Nantes, Serv Genet Med, 9 Quai Moncousu, F-44093 Nantes 1, France
- [2] Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderANNALS OF NEUROLOGY, 2024,Blackburn, Patrick R.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAEbstein, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Med Greifswald, Inst Med Biochem & Mol Biol, Greifswald, Germany Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHsieh, Tzung-Chien论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMotta, Marialetizia论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARadio, Francesca Clementina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHerkert, Johanna C.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARinne, Tuula论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Childrens Mercy Hosp, Dept Pathol & Lab Med, Kansas City, MO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARapp, Michele论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Colorado, Dept Clin Nutr, Aurora, CO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAAlders, Mariel论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Genet, Amsterdam, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMaas, Saskia论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Genet, Amsterdam, Netherlands St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGerard, Benedicte论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Strasbourg, Unite Biol & Genet Mol, Strasbourg, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USASmol, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Lille, Inst Genet Med, RADEME Team, CHU Lille, Lille, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVincent-Delorme, Catherine论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Hop Jeanne Flandre, Dept Clin Genet, Lille, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USACogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVincent, Marie论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France Nantes Univ, Serv Genet Med, CHU Nantes, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USABachmann-Gagescu, Ruxandra论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, Schlieren, Switzerland Univ Zurich, Dept Mol Life Sci, Zurich, Switzerland St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USA论文数: 引用数: h-index:机构:Joset, Pascal论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Inst Med Genet & Pathol, Med Genet, Basel, Switzerland St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAFerrero, Giovanni Battista论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, San Luigi Gonzaga Univ Hosp, Dept Clin & Biol Sci, Turin, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USACiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Mol Genet & Funct Genom, Rome, Italy St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAHusson, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Rouvray, Dept Res, Rouen, France Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGuerrot, Anne-Marie论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USABacino, Carlos论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMacmurdo, Colleen论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Med Ctr, Dept Internal Med, Div Med Genet, Temple, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAThompson, Stephanie S.论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Med Ctr, Dept Internal Med, Div Med Genet, Temple, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet, Ctr Reference Anomalies Dev & Syndromes Malformat, FHU TRANSLAD CHU, Dijon, France Univ Bourgogne Franche Comte, Equipe GAD, INSERM UMR1231, Dijon, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMau-Them, Frederic Tran论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Equipe GAD, INSERM UMR1231, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USADeb, Wallid论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAVignard, Virginie论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CHU Nantes, CNRS,INSERM, Nantes, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAAgrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA USA Univ Miami, Holtz Childrens Hosp, Dept Pediat, Div Neonatol,Miller Sch Med, Miami, FL USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMadden, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA USA Univ Miami, Holtz Childrens Hosp, Dept Pediat, Div Neonatol,Miller Sch Med, Miami, FL USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USALecoquierre, Francois论文数: 0 引用数: 0 h-index: 0机构: Normandie Univ, Reference Ctr Dev Disorders, Dept Genet, UNIROUEN, Rouen, France St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAZech, Michael论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Tech Univ Munich, Inst Adv Study, Garching, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany Tech Univ Munich, Inst Adv Study, Garching, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USANecpal, Jan论文数: 0 引用数: 0 h-index: 0机构: Zvolen Hosp, Dept Neurol, Zvolen, Slovakia Comenius Univ, Fac Med, Dept Neurol, Bratislava, Slovakia St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAJech, Robert论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Gen Univ Hosp, Fac Med 1, Dept Neurol, Prague, Czech Republic St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAWinkelmann, Juliane论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Muenchen, Inst Neurogenom, Neuherberg, Germany Tech Univ Muenchen, Neurogenet, Munich, Germany Klinikum Rechts Isar TUM, Inst Human Genet, Munich, Germany Munich Cluster Syst Neurol SyNergy, Munich, Germany St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAKoprusakova, Monika Turcanova论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Jessenius Fac Med Martin, Martin, Slovakia St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAKonstantopoulou, Vassiliki论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAYounce, John R.论文数: 0 引用数: 0 h-index: 0机构: Univ North Carolina Chapel Hill, Dept Neurol, Chapel Hill, NC USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAShinawi, Marwan论文数: 0 引用数: 0 h-index: 0机构: St Louis Childrens Hosp, Div Genet & Genom Med, St. Louis, MO USA Washington Univ, Sch Med, Dept Neurol, St. Louis, MO USA St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMighton, Chloe论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada St Michaels Hosp, Li Ka Shing Knowledge Inst, Policy Res Program, Genom Hlth Serv, Toronto, ON, Canada St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAFung, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network & Sinai Hlth Syst, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USAMorel, Chantal F.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Network & Sinai Hlth Syst, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Univ Toronto, Dept Med, Toronto, ON, Canada St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USALerner-Ellis, Jordan论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Hosp, Pathol & Lab Med, Sinai Hlth, Toronto, ON, Canada St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USADitroia, Stephanie论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pathol, 262 Danny Thomas Pl, Memphis, TN 38105 USA
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0 引用数: 0 h-index: 0机构: PMAS Arid Agr Univ Rawalpindi, Univ Inst Biochem & Biotechnol UIBB, Rawalpindi, Pakistan Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanySanner, Anne论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Biochem & Mol Biol, Med Fac, Bonn, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyGeorgomanolis, Theodoros论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Cologne Excellence Cluster Cellular Stress Respons, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyHaasters, Judith论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr Von Hauner Childrens Hosp, LMU Hosp Munich, Dept Paediat Neurol & Dev Med, Munich, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyBecker, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany Univ Hosp 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Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Univ Hosp Salamanca, Reference Unit Rare Dis DiERCyL, Med Dept,Clin Biochem Dept,IBSAL, Salamanca, Spain Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyWinter, Dominic论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyPogoda, Hans -Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Zool, Dev Biol Unit, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, Germany论文数: 引用数: h-index:机构:Hammerschmidt, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Weyertal 115b, D-50931 Cologne, Germany Univ Cologne, Fac Med, Ctr Mol Med Cologne CMMC, Cologne, Germany Univ Cologne, Inst Zool, Dev Biol Unit, Cologne, Germany Univ Cologne, Fac Med, Cologne Ctr Genom CCG, Weyertal 115b, D-50931 Cologne, GermanyKraft, Florian论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Inst Human Genet & Genom Med, Med 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Tubingen, Dept Neurol, D-72076 Tubingen, GermanySchatz, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Inst Human Genet, Peter Mayr Str 1, D-6020 Munich, Germany Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyFleger, Martin论文数: 0 引用数: 0 h-index: 0机构: Landeskrankenhaus Bregenz, Dept Pediat, Carl Pedenz Str 2, A-6900 Bregenz, Austria Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyKurringer, Andreas论文数: 0 引用数: 0 h-index: 0机构: Landeskrankenhaus Bregenz, Dept Pediat, Carl Pedenz Str 2, A-6900 Bregenz, Austria Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyBalousha, Ghassan论文数: 0 引用数: 0 h-index: 0机构: Al Quds Univ, Dept Pathol & Histol, Eastern Jerusalem 19356, Palestine Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyGhanim, Zaid论文数: 0 引用数: 0 h-index: 0机构: Palestine Med Complex, Ramallah, Palestine Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyAlkuraya, Fowzan S.论文数: 0 引用数: 0 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Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyParks, Kendall C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyArgilli, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94158 USA Univ Calif San Francisco, Weill Inst Neurosci, San Francisco, CA 94158 USA Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyBegtrup, Amber论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 207 Perry Pkwy, Gaithersburg, MD 20877 USA Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyGalehdari, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Fac Sci, Dept Genet, Ahvaz, Iran Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyBalousha, Osama论文数: 0 引用数: 0 h-index: 0机构: Al Quds Univ, Fac Med, Eastern Jerusalem 19356, Palestine Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyShariati, Gholamreza论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Fac Med, Dept Med Genet, Ahvaz, Iran Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyMazaheri, Neda论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Fac Sci, Dept Genet, Ahvaz, Iran Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyMalamiri, Reza A.论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Dept Paediat Neurol, Golestan Med Educ & Res Ctr, Ahvaz, Iran Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyPagnamenta, Alistair T.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Ctr Human Genet, Natl Inst Hlth Res Oxford Biomed Res Ctr, Oxford OX3 7BN, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyKingston, Helen论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Hlth Innovat Manchester, Manchester M13 9WL, Lancs, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyBanka, Siddharth论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med, Hlth Innovat Manchester, Manchester M13 9WL, Lancs, England Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9WL, Lancs, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyJackson, Adam论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9WL, Lancs, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyOsmond, Mathew论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario Res Inst, Ottawa, ON K1H 8L1, Canada Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyRiess, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyNaegele, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Tuebingen, Dept Neuroradiol, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanySchuster, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurol, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Ctr Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyHauser, Stefan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurol, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Ctr Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyAdmard, Jakob论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, NGS Competence Ctr Tubingen, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyCasadei, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, NGS Competence Ctr Tubingen, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyVelic, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Proteome Ctr Tubingen, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyMacek, Boris论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Proteome Ctr Tubingen, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyOssowski, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, NGS Competence Ctr Tubingen, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanyMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London WC1N 3BG, England Univ Tubingen, Dept Neurol, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurol, D-72076 Tubingen, Germany Univ Tubingen, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Ctr Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurol, D-72076 Tubingen, Germany
- [8] DO HETEROZYGOUS LOSS-OF-FUNCTION VARIANTS IN MTOR CAUSE A TREATABLE NEURODEVELOPMENTAL PHENOTYPE?AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (04) : 707 - 708White, S. M.论文数: 0 引用数: 0 h-index: 0机构: Victorian Clin Genet Serv, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaBhoj, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaDauber, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Dept Pediat, Cincinnati, OH 45221 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaMaystadt, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium Victorian Clin Genet Serv, Melbourne, Vic, AustraliaCrespin, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium Victorian Clin Genet Serv, Melbourne, Vic, AustraliaStark, Z.论文数: 0 引用数: 0 h-index: 0机构: Victorian Clin Genet Serv, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaAmor, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Melbourne, Vic, Australia Victorian Clin Genet Serv, Melbourne, Vic, AustraliaHakonarson, H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, AustraliaLi, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Victorian Clin Genet Serv, Melbourne, Vic, Australia
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- [10] Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderGENETICS IN MEDICINE, 2024, 26 (05)Accogli, Andrea论文数: 0 引用数: 0 h-index: 0机构: McGill Univ Hlth Ctr MUHC, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAPark, Young N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALenk, Guy M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASeverino, Mariasavina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Neuroradiol Unit, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAScala, Marcello论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy IRCCS Ist Giannina Gaslini, Pediat Neurol & Muscular Dis Unit, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USADenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Univ Childrens Hosp, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASalpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England Univ Aquila, Dept Biotechnol & Appl Clin Sci, I-67100 Laquila, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAde Marco, Patrizia论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini, UOC Genet Med, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAGuerrisi, Sara论文数: 0 引用数: 0 h-index: 0机构: IRCCS G Gaslini, UOC Genet Med, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USATorella, Annalaura论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USANigro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Telethon Inst Genet & Med TIGEM, Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USASrour, Myriam论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ, Dept Pediat, Div Pediat Neurol, Montreal, PQ, Canada McGill Univ Hlth Ctr MUHC, Res Inst, Montreal, PQ, Canada McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USATurro, Ernest论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY USA Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY USA Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USALabarque, Veerle论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium Univ Hosp Leuven, Paediat Hematooncol, Leuven, Belgium Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAFreson, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAPiatelli, Gianluca论文数: 0 引用数: 0 h-index: 0机构: Gaslini Children s Hosp, Dept Neurosurg, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USACapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist G Gaslini, Genom & Clin Genet, Genoa, Italy Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAKitzman, Jacob O.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USAMeisler, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA Univ Michigan, Dept Human Genet, 4808 Med Sci 2, Ann Arbor, MI USA