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- [31] Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case ReportCUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (08)Finsterer, Josef论文数: 0 引用数: 0 h-index: 0机构: Neurol & Neurophysiol Ctr, Neurol, Vienna, Austria Neurol & Neurophysiol Ctr, Neurol, Vienna, AustriaMehri, Sounira论文数: 0 引用数: 0 h-index: 0机构: Biochem Lab, Nutr Funct Foods & Vasc Hlth, Fac Med, Monastir, Tunisia Neurol & Neurophysiol Ctr, Neurol, Vienna, Austria
- [32] Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 54 - 54Guasto, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Imagine Inst, Paris, France Imagine Inst, Paris, FranceDubail, Johanne论文数: 0 引用数: 0 h-index: 0机构: Imagine Inst, Paris, FranceAlbesa, Sergio Aguilera论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Pamplona, Spain Imagine Inst, Paris, FrancePaganini, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Pavia, Italy Imagine Inst, Paris, FranceVanhulle, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, Rouen, France Imagine Inst, Paris, FranceHaouari, Walid论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Chatenay Malabry, France Imagine Inst, Paris, FranceGorria-Redondo, Nerea论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Pamplona, Spain Imagine Inst, Paris, FranceAznal, Elena论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Pamplona, Spain Imagine Inst, Paris, FranceBoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Paris, France Imagine Inst, Paris, FranceSchluter, Agatha论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IDIBELL, Barcelona, Spain Imagine Inst, Paris, FranceVerdura, Edgard论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IDIBELL, Barcelona, Spain Imagine Inst, Paris, FranceBruneel, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Chatenay Malabry, France Imagine Inst, Paris, FranceRossi, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Pavia, Italy Imagine Inst, Paris, FranceHuber, Celine论文数: 0 引用数: 0 h-index: 0机构: Imagine Inst, Paris, FrancePujol, Aurora论文数: 0 引用数: 0 h-index: 0机构: Biomed Res Inst IDIBELL, Barcelona, Spain Imagine Inst, Paris, FranceCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Imagine Inst, Paris, France
- [33] Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyBRAIN, 2022, 145 (10) : 3711 - 3722Guasto, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceDubail, Johanne论文数: 0 引用数: 0 h-index: 0机构: Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceAguilera-Albesa, Sergio论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Dept Pediat, Pediat Neurol Unit, Navarrabiomed, Pamplona 31008, Spain Complejo Hosp Navarra, Dept Pediat, Childrens Medically Complex Dis Unit, Pamplona, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FrancePaganini, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Unit Biochem, Pavia, Italy Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceVanhulle, Catherine论文数: 0 引用数: 0 h-index: 0机构: Hop Charles Nicolle, Serv Neuropediatrie, Pavillon Martainville, F-76031 Rouen, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceHaouari, Walid论文数: 0 引用数: 0 h-index: 0机构: Paris Saclay Univ, INSERM UMR1193, F-92220 Chatenay Malabry, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceGorria-Redondo, Nerea论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Dept Pediat, Pediat Neurol Unit, Navarrabiomed, Pamplona 31008, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceAznal-Sainz, Elena论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Navarra, Dept Pediat, Childrens Medically Complex Dis Unit, Pamplona, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceBoddaert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Imagerie Pediat, F-75015 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FrancePlanas-Serra, Laura论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceSchluter, Agatha论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceVelez-Santamaria, Valentina论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Hosp Univ Bellvitge IDIBELL, Neurol Dept, Unitat Neuromuscular, Barcelona, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceVerdura, Edgard论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceBruneel, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Paris Saclay Univ, INSERM UMR1193, F-92220 Chatenay Malabry, France Hop Bichat Claude Bernard, AP HP, Biochim Metab & Cellulaire, F-75018 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France论文数: 引用数: h-index:机构:Huber, Celine论文数: 0 引用数: 0 h-index: 0机构: Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FrancePujol, Aurora论文数: 0 引用数: 0 h-index: 0机构: Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Network Rare Dis CIBERER, Madrid 28029, Spain Catalan Inst Res & Adv Studies ICREA, Barcelona 08010, Catalonia, Spain Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, FranceCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Serv Genet Clin, Ctr Reference Malad Osseuses Constitut, F-75015 Paris, France Paris Cite Univ, INSERM UMR1163, Imagine Inst, F-75015 Paris, France
- [34] Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesisBLOOD, 2023, 141 (04) : 406 - 421Marin-Quilez, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainDi Buduo, Christian Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainDiaz-Ajenjo, Lorena论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainAbbonante, Vittorio论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy Magna Graecia Univ Catanzaro, Dept Hlth Sci, Catanzaro, Italy Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainVuelta, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainSoprano, Paolo Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainMiguel-Garcia, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainSantos-Minguez, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainSerramito-Gomez, Inmaculada论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainRuiz-Sala, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Ctr Diagnost Enfermedades Mol, CIBERER, IdIPAZ, Madrid, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainPenarrubia, Maria Jesus论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Valladolid, Serv Hematol, Valladolid, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainPardal, Emilia论文数: 0 引用数: 0 h-index: 0机构: Hosp Virgen Puerto, Serv Hematol, Plasencia, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainHernandez-Rivas, Jesus Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Complejo Asistencial Univ Salamanca CAUSA, Serv Hematol, Inst Invest Biomed Salamanca IBSAL, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainGonzalez-Porras, Jose Ramon论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Univ Salamanca CAUSA, Serv Hematol, Inst Invest Biomed Salamanca IBSAL, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainGarcia-Tunon, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Alcala, Dept Biomed & Biotecnol, Alcala De Henares, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainBenito, Rocio论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainRivera, Jose论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Morales Meseguer, Serv Hematol & Oncol Med, Ctr Reg Hemodonac, Murcia, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainBalduini, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Pavia, Italy Tufts Univ, Dept Biomed Engn, Medford, MA USA Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, SpainBastida, Jose Maria论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Univ Salamanca CAUSA, Serv Hematol, Inst Invest Biomed Salamanca IBSAL, Salamanca, Spain Univ Salamanca, Inst Invest Biomed Salamanca IBSAL, Ctr Invest Canc CIC, Inst Biol Mol & Celular Canc IBMCC,Ctr Super Inve, Salamanca, Spain
- [35] Biallelic and monoallelic variants in PLXNA1 cause a syndromic disorder with neurodevelopmental and oculo-cerebral anomaliesEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 130 - 131Dworschak, G. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Anat, Bonn, Germany Univ Bonn, Childrens Hosp, Dept Pediat, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyPunetha, J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyKalanithy, J. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyMingardo, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyErdem, H. B.论文数: 0 引用数: 0 h-index: 0机构: Univ Hlth Sci, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, Turkey Univ Bonn, Inst Human Genet, Bonn, GermanyAkdemir, Z. C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyKaraca, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Genet, Birmingham, AL USA Univ Bonn, Inst Human Genet, Bonn, GermanyMitani, T.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyMarafi, D.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyFatih, J. M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyJhangiani, S. N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyHunter, J. V.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Radiol, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyDakal, T.论文数: 0 引用数: 0 h-index: 0机构: Mohanlal Sukhadia Univ, Dept Biotechnol, Genome & Computat Biol Lab, Udaipur, Rajasthan, India Univ Bonn, Inst Human Genet, Bonn, GermanyDhabhai, B.论文数: 0 引用数: 0 h-index: 0机构: Mohanlal Sukhadia Univ, Dept Biotechnol, Genome & Computat Biol Lab, Udaipur, Rajasthan, India Univ Bonn, Inst Human Genet, Bonn, GermanyDabbagh, O.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh, Saudi Arabia Univ Bonn, Inst Human Genet, Bonn, GermanyAlsaif, H. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyAlkuraya, F. S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia Univ Bonn, Inst Human Genet, Bonn, GermanyMaroofian, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London, England Univ Bonn, Inst Human Genet, Bonn, GermanyHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London, England Univ Bonn, Inst Human Genet, Bonn, GermanyEfthymiou, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London, England Univ Bonn, Inst Human Genet, Bonn, GermanyDominik, N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London, England Univ Bonn, Inst Human Genet, Bonn, GermanySalpietro, V.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, Queen Sq, London, England Univ Bonn, Inst Human Genet, Bonn, GermanySultan, T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Lahore, Inst Child Hlth, Dept Pediat Neurol, Lahore, Pakistan Univ Bonn, Inst Human Genet, Bonn, GermanyHaider, S.论文数: 0 引用数: 0 h-index: 0机构: Wah Med Coll, Dept Paediat Med, Wah, Pakistan Univ Bonn, Inst Human Genet, Bonn, GermanyBibi, F.论文数: 0 引用数: 0 h-index: 0机构: PMAS Arid Agr Univ, Univ Inst Biochem & Biotechnol, Rawalpindi, Pakistan Univ Bonn, Inst Human Genet, Bonn, Germany论文数: 引用数: h-index:机构:Hoefele, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyRiedhammer, K. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyWagner, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, GermanyGuella, I.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Dept Med Genet, Vancouver, BC, Canada Univ Bonn, Inst Human Genet, Bonn, GermanyDemos, M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Pediat, Div Neurol, Vancouver, BC, Canada BC Childrens Hosp, Vancouver, BC, Canada Univ Bonn, Inst Human Genet, Bonn, GermanyKeren, B.论文数: 0 引用数: 0 h-index: 0机构: Hop Pitie Salpe triere, AP HP, Dept Genet, Paris, France Univ Bonn, Inst Human Genet, Bonn, GermanyBuratti, J.论文数: 0 引用数: 0 h-index: 0机构: Hop Pitie Salpe triere, AP HP, Dept Genet, Paris, France Univ Bonn, Inst Human Genet, Bonn, GermanyCharles, P.论文数: 0 引用数: 0 h-index: 0机构: Hop Pitie Salpe triere, AP HP, Dept Genet, Paris, France Univ Bonn, Inst Human Genet, Bonn, GermanyNava, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Pitie Salpe triere, AP HP, Dept Genet, Paris, France Univ Bonn, Inst Human Genet, Bonn, GermanyValkanas, E.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Ctr Mendelian Genom, Cambridge, MA 02142 USA Univ Bonn, Inst Human Genet, Bonn, GermanyWaddell, L. B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Kids Res, Sydney, NSW, Australia Univ Bonn, Inst Human Genet, Bonn, GermanyJones, K. J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Kids Res, Sydney, NSW, Australia Univ Bonn, Inst Human Genet, Bonn, GermanyOates, E. C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Kids Res, Sydney, NSW, Australia Univ Bonn, Inst Human Genet, Bonn, GermanyCooper, S. T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Neurosci Ctr, Kids Res, Sydney, NSW, Australia Univ Bonn, Inst Human Genet, Bonn, GermanyMacArthur, D.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Univ Bonn, Inst Human Genet, Bonn, GermanySchnur, R. E.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Bonn, Inst Human Genet, Bonn, GermanyHoganson, G. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Coll Med, Dept Pediat, Chicago, IL USA Univ Bonn, Inst Human Genet, Bonn, GermanyBurton, J. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Coll Med, Dept Pediat, Chicago, IL USA Univ Bonn, Inst Human Genet, Bonn, GermanyMcEntagart, M.论文数: 0 引用数: 0 h-index: 0机构: Univ London, South West Thames Reg Genet Ctr, St Georges Healthcare NHS Trust, London, England Univ Bonn, Inst Human Genet, Bonn, GermanyPehlivan, D.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyPosey, J. E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyLupski, J. R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Bonn, Inst Human Genet, Bonn, GermanyReutter, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Hosp Bonn, Dept Neonatol & Pediat Intens Care, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, Germany
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