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- [1] Whole Genome Sequencing in Persistently Unsolved White Matter DisordersANNALS OF NEUROLOGY, 2018, 84 : S353 - S353Helman, G.论文数: 0 引用数: 0 h-index: 0Lajoie, B.论文数: 0 引用数: 0 h-index: 0Crawford, J.论文数: 0 引用数: 0 h-index: 0Pizzino, A.论文数: 0 引用数: 0 h-index: 0Schmidt, J.论文数: 0 引用数: 0 h-index: 0Takanohashi, A.论文数: 0 引用数: 0 h-index: 0Simons, C.论文数: 0 引用数: 0 h-index: 0Taft, R.论文数: 0 引用数: 0 h-index: 0Vanderver, A.论文数: 0 引用数: 0 h-index: 0
- [2] Genome sequencing in persistently unsolved white matter disordersANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2020, 7 (01): : 144 - 152Helman, Guy论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaLajoie, Bryan R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaCrawford, Joanna论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaTakanohashi, Asako论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 34th & Civ Ctr Blvd, Philadelphia, PA 19010 USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaWalkiewicz, Marzena论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaDolzhenko, Egor论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaGross, Andrew M.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaGainullin, Vladimir G.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaBent, Stephen J.论文数: 0 引用数: 0 h-index: 0机构: CSIRO, Data61, Brisbane, Qld, Australia Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaJenkinson, Emma M.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, Lancs, England Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaFerdinandusse, Sacha论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaWaterham, Hans R.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia论文数: 引用数: h-index:机构:Bertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Lab Mol Med, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Osped Pediat Bambino Gesu, Genet & Rare Dis Res Div, I-00146 Rome, Italy Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaWolf, Nicole, I论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol, Amsterdam, Netherlands Amsterdam Neurosci, Amsterdam, Netherlands Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaAbbink, Truus E. M.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol, Amsterdam, Netherlands Amsterdam Neurosci, Amsterdam, Netherlands Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaKirwin, Susan M.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I DuPont Hosp Children, Nemours Biomed Res, Mol Diagnost Lab, Delaware, OH USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaTan, Christina M.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I DuPont Hosp Children, Nemours Biomed Res, Mol Diagnost Lab, Delaware, OH USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaHobson, Grace M.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I DuPont Hosp Children, Nemours Biomed Res, Mol Diagnost Lab, Delaware, OH USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaGuo, Long论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaIkegawa, Shiro论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaPizzino, Amy论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 34th & Civ Ctr Blvd, Philadelphia, PA 19010 USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaSchmidt, Johanna L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 34th & Civ Ctr Blvd, Philadelphia, PA 19010 USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaBernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Montreal Childrens Hosp, Div Med Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaSchiffmann, Raphael论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Res Inst, Inst Metab Dis, Dallas, TX USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australiavan der Knaap, Marjo S.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Dept Child Neurol, Amsterdam, Netherlands Amsterdam Neurosci, Amsterdam, Netherlands Vrije Univ Amsterdam, Amsterdam Neurosci, Dept Funct Genom, Amsterdam, Netherlands Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaSimons, Cas论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaTaft, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, AustraliaVanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 34th & Civ Ctr Blvd, Philadelphia, PA 19010 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Royal Childrens Hosp Melbourne, Murdoch Childrens Res Inst, Parkville, Vic, Australia
- [3] Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter DisordersANNALS OF NEUROLOGY, 2020, 88 (02) : 264 - 273Vanderver, Adeline论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USABernard, Genevieve论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada McGill Univ, Dept Pediat, Montreal, PQ, Canada McGill Univ, Dept Human Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada McGill Univ Hlth Ctr, Child Hlth & Human Dev Program, Res Inst, Montreal, PQ, Canada Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAHelman, Guy论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USASherbini, Omar论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USABoeck, Ryan论文数: 0 引用数: 0 h-index: 0机构: Child Neurol Consultants Austin, Austin, TX USA Univ Texas Austin, Dell Med Sch, Austin, TX 78712 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USACohn, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Broadlands Family Practice Ashburn, Family Med, Ashburn, VA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USACollins, Abigail论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Neurol, Anschutz Med Campus, Aurora, CO USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USADemarest, Scott论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Neurol, Anschutz Med Campus, Aurora, CO USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USADobbins, Katherine论文数: 0 引用数: 0 h-index: 0机构: Walter Reed Natl Mil Med Ctr, Bethesda, MD USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAEmrick, Lisa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAFraser, Jamie论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Genet & Metab, Rare Dis Inst, Washington, DC USA George Washington Univ, Washington, DC USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAMasser-Frye, Diane论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp, San Diego, CA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAHayward, Jean论文数: 0 引用数: 0 h-index: 0机构: Kaiser Oakland, Dept Pediat, Oakland, CA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAKarmarkar, Swati论文数: 0 引用数: 0 h-index: 0机构: Le Bonheur Childrens Hosp, Dept Neurol, Memphis, TN USA Univ Tennessee, Dept Pediat, Hlth Sci Ctr, Memphis, TN USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAKeller, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Pediat, Div Neurol, Atlanta, GA 30322 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAMirrop, Samuel论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Div Neurol, Los Angeles, CA 90027 USA Univ Southern Calif, Keck Sch Med, Los Angeles, CA 90007 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAMitchell, Wendy论文数: 0 引用数: 0 h-index: 0机构: Pediat Associates Austin, Austin, TX USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA论文数: 引用数: h-index:机构:Sherr, Elliott论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Sch Med, Dept Neurol, San Francisco, CA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAvan Haren, Keith论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Med Ctr, Dept Neurol, Stanford, CA 94305 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAWaters, Erica论文数: 0 引用数: 0 h-index: 0机构: Pediat Associates Stockton, Stockton, CA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAWilson, Jenny L.论文数: 0 引用数: 0 h-index: 0机构: Oregon Hlth & Sci Univ, Sch Med, Div Pediat Neurol, Portland, OR 97201 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAZhorne, Leah论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa Hlth Care, Carver Coll Med, Stead Family Dept Pediat, Iowa City, IA USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USASchiffmann, Raphael论文数: 0 引用数: 0 h-index: 0机构: Baylor Scott & White Res Inst, Inst Metab Dis, Dallas, TX USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAvan der Knaap, Marjo S.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands Vrije Univ Amsterdam, Dept Funct Genom, Amsterdam Neurosci, Amsterdam, Netherlands Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAPizzino, Amy论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USADubbs, Holly论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USAShults, Justine论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Biostat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USASimons, Cas论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USATaft, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Illumina, San Diego, CA 92122 USA Childrens Hosp Philadelphia, Div Neurol, 3415 Civ Ctr Blvd, Philadelphia, PA 19104 USA
- [4] Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationNEUROLOGY, 2022, 98 (09) : E912 - E923Schluter, Agatha论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainRodriguez-Palmero, Agusti论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Hosp Univ Germans Trias I Pujol, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain Univ Autonoma Barcelona, Hosp Univ Germans Trias I Pujol, Dept Pediat, Pediat Neurol Unit, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainVerdura, Edgard论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainVelez-Santamaria, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Barcelona, Hosp Univ Bellvitge & Hospiralet de Llobregat, Neurol Dept, Neuromuscular Unit, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainRuiz, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainFourcade, Stephane论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainPlanas-Serra, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainJose Martinez, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainGuilera, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainGiros, Marisa论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Invest Biomed August Pi I Sunyer IDIBAPS, Secc Errors Congenits Metab IBC, Serv Bioquim & Genet Mol,Hosp Clin, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainArtuch, Rafael论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Hosp St Joan de Deu IRP HSJD, Inst Recerca Pediat, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainYoldi, Maria Eugenia论文数: 0 引用数: 0 h-index: 0机构: Navarrabiomed Res Fdn, Navarra Hlth Serv, Dept Pediat, Pediat Neurol Unit, San Sebastian, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainO'Callaghan, Mar论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Hosp St Joan de Deu IRP HSJD, Inst Recerca Pediat, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainGarcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Hosp St Joan de Deu IRP HSJD, Inst Recerca Pediat, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainArmstrong, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Hosp St Joan de Deu IRP HSJD, Mol & Genet Med Sect, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainMarti, Itxaso论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Donostia, Dept Neuropediat, San Sebastian, Spain Biodonostia Hlth Res Inst Biodonostia HRI, San Sebastian, Spain Univ Basque Cty UPV EHU, San Sebastian, Spain Carlos III Hlth Inst, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainMondragon Rezola, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Donostia, Dept Neurol, San Sebastian, Spain Biodonostia Hlth Res Inst Biodonostia HRI, San Sebastian, Spain Carlos III Hlth Inst, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainRedin, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Dept Med Translat & Neurogenet, IGBMC, CNRS,UMR 7104,INSERM U964, Illkirch Graffenstaden, France Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainLouis Mandel, Jean论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Dept Med Translat & Neurogenet, IGBMC, CNRS,UMR 7104,INSERM U964, Illkirch Graffenstaden, France Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainConejo, David论文数: 0 引用数: 0 h-index: 0机构: Complejo Asistencial Univ Burgos, Burgos, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainSierra-Corcoles, Concepcion论文数: 0 引用数: 0 h-index: 0机构: Complejo Hosp Jaen, Dept Paediat Neurol, Jaen, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainBeltran, Sergi论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol GIST, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainGut, Marta论文数: 0 引用数: 0 h-index: 0机构: Barcelona Inst Sci & Technol GIST, Ctr Genom Regulat CRG, CNAG CRG, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainVazquez, Elida论文数: 0 引用数: 0 h-index: 0机构: Hosp Materno Infantil Vall dHebron, Dept Pediat Radiol, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainDel Toro, Mireia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Pediat Neurol Dept, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainTroncoso, Monica论文数: 0 引用数: 0 h-index: 0机构: Cent Campus Univ Chile, Hosp Clin San Borja Arriaran, Pediat Neurol, Santiago, Chile Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainPerez-Jurado, Luis A.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Hosp Mar Res Inst IMIM, Genet Serv, Barcelona, Spain Univ Pompeu Fabra, Dept Expt & Hlth Sci, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainGutierrez-Solana, Luis G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp Nino Jesus, Dept Paediat Neurol, Madrid, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainLopez de Munain, Adolfo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Donostia, Dept Neurol, San Sebastian, Spain Biodonostia Hlth Res Inst Biodonostia HRI, San Sebastian, Spain Univ Basque Cty UPV EHU, San Sebastian, Spain Carlos III Hlth Inst, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainCasasnovas, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Barcelona, Hosp Univ Bellvitge & Hospiralet de Llobregat, Neurol Dept, Neuromuscular Unit, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainAguilera-Albesa, Sergio论文数: 0 引用数: 0 h-index: 0机构: Navarrabiomed Res Fdn, Navarra Hlth Serv, Dept Pediat, Pediat Neurol Unit, San Sebastian, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainMacaya, Alfons论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Univ Autonoma Barcelona, Vall dHebron Res Inst, Pediat Neurol Res Grp, Barcelona, Spain Univ Autonoma Barcelona, Vall dHebron Univ Hosp, Pediat Neurol Dept, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, SpainPujol, Aurora论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain Univ Autonoma Barcelona, Inst Salud Carlos III ISCIII, Barcelona, Spain Catalan Inst Res & Adv Studies ICREA, Barcelona, Spain Univ Autonoma Barcelona, Neurometab Dis Lab, Bellvitge Biomed Res Inst IDIBELL, Barcelona, Spain
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