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- [1] Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case reportBMC Pediatrics, 19 (1)Kondakova Olga Borisovna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Krasnenko Anna Yurievna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Tsukanov Kirill Yurievich论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Klimchuk Olesya Igorevna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Korostin Dmitriy Olegovich论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Davidova Anna Igorevna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Batysheva Tatyana Timofeevna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Zhurkova Natalia Vyacheslavovna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Surkova Ekaterina Ivanovna论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Shatalov Peter Alekseevich论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,Ilinsky Valery Vladimirovich论文数: 0 引用数: 0 h-index: 0机构: Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department,
- [2] Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case reportBMC PEDIATRICS, 2019, 19Borisovna, Kondakova Olga论文数: 0 引用数: 0 h-index: 0机构: Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaYurievna, Krasnenko Anna论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaYurievich, Tsukanov Kirill论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaIgorevna, Klimchuk Olesya论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaOlegovich, Korostin Dmitriy论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaIgorevna, Davidova Anna论文数: 0 引用数: 0 h-index: 0机构: Inst Gene Biol, Vavilova St 34-5, Moscow 119334, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaTimofeevna, Batysheva Tatyana论文数: 0 引用数: 0 h-index: 0机构: Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaVyacheslavovna, Zhurkova Natalia论文数: 0 引用数: 0 h-index: 0机构: Natl Med Res Ctr Childrens Hlth, Lomonosov Prospect 2-1, Moscow 119296, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaIvanovna, Surkova Ekaterina论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaAlekseevich, Shatalov Peter论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Pirogov Russian Natl Res Med Univ, Veltischev Res & Clin Inst Pediat, Taldomskaya Str 2, Moscow 125412, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, RussiaVladimirovich, Ilinsky Valery论文数: 0 引用数: 0 h-index: 0机构: Genotek Ltd, Nastavnicheskii Pereulok 17-1, Moscow 105120, Russia Pirogov Russian Natl Res Med Univ, Ostrovitianova St 1, Moscow 117997, Russia Inst Biomed Chem, Pogodinskaya St 10,Bldg 8, Moscow 119121, Russia Vavilov Inst Gen Genet, Gubkina St 3, Moscow 119333, Russia Moscow Healthcare Dept, Sci & Pract Ctr Pediat Psychoneurol, Michurinsky Prospect 74, Moscow 119602, Russia
- [3] Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathyActa Neurologica Belgica, 2021, 121 : 143 - 151Pouria Mohammadi论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical SciencesMohammad Ali Daneshmand论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical SciencesNejat Mahdieh论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical SciencesMahmoud Reza Ashrafi论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical SciencesMorteza Heidari论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical SciencesMasoud Garshasbi论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares University,Department of Medical Genetics, Faculty of Medical Sciences
- [4] IDENTIFICATION OF NOVEL GENES FOR THE MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY SYNDROMESJOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S20 - S20Riemersma, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsBuysse, K.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsRoscioli, T.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsWillemsen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsKamsteeg, E. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsWevers, R. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsMorava, E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlandsvan Bokhoven, H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, NetherlandsLefeber, D. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, UMC, NL-6525 ED Nijmegen, Netherlands
- [5] Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathyACTA NEUROLOGICA BELGICA, 2021, 121 (01) : 143 - 151Mohammadi, Pouria论文数: 0 引用数: 0 h-index: 0机构: Tarbiat Modares Univ, Dept Med Genet, Fac Med Sci, Tehran, Iran Tarbiat Modares Univ, Dept Med Genet, Fac Med Sci, Tehran, IranDaneshmand, Mohammad Ali论文数: 0 引用数: 0 h-index: 0机构: Dr Daneshmand Pathol Lab, Arak, Iran Tarbiat Modares Univ, Dept Med Genet, Fac Med Sci, Tehran, Iran论文数: 引用数: h-index:机构:Ashrafi, Mahmoud Reza论文数: 0 引用数: 0 h-index: 0机构: Univ Tehran Med Sci, Dept Pediat Neurol, Pediat Ctr Excellence, Childrens Med Ctr, Tehran, Iran Tarbiat Modares Univ, Dept Med Genet, Fac Med Sci, Tehran, Iran论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [6] Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutationNEUROMUSCULAR DISORDERS, 2021, 31 (11) : 1169 - 1178Shelton, G. Diane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAMinor, Katie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet & Biomed Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAGuo, Ling T.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAFriedenberg, Steven G.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet Clin Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USACullen, Jonah N.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet Clin Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAHord, Jeffrey M.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAVenzke, David论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAAnderson, Mary E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USADevereaux, Megan论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAProuty, Sally J.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAHandelman, Caryl论文数: 0 引用数: 0 h-index: 0机构: Vet Housecalls Long Isl, Commack, NY 11725 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USACampbell, Kevin P.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Senator Paul D Wellstone Muscular Dystrophy Speci, Dept Mol Physiol & Biophys, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Howard Hughes Med Inst, Roy J & Lucille A Carver Coll Med, Iowa City, IA 52242 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USAMickelson, James R.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Vet Med, Dept Vet & Biomed Sci, St Paul, MN 55108 USA Univ Calif San Diego, Sch Med, Dept Pathol, La Jolla, CA 92093 USA
- [7] DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyANNALS OF NEUROLOGY, 2012, 72 (04) : 550 - 558论文数: 引用数: h-index:机构:Aiello, Chiara论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Mol Med Lab, Rome, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsRace, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Human Genet, Louvain, Belgium Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsMorava, Eva论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Pediat, Med Ctr, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsFoulquier, Francois论文数: 0 引用数: 0 h-index: 0机构: Lille Univ Sci & Technol, Struct & Funct Glycobiol Unit, CNRS, IFR147,UMR 8576, Villeneuve Dascq, France Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsRiemersma, Moniek论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsPassarelli, Chiara论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Mol Med Lab, Rome, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsConcolino, Daniela论文数: 0 引用数: 0 h-index: 0机构: Magna Graecia Univ Catanzaro, Dept Pediat, Catanzaro, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsCarella, Massimo论文数: 0 引用数: 0 h-index: 0机构: Casa Sollievo Sofferenza Hosp, IRCCS, San Giovanni Rotondo, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsSantorelli, Filippo论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Stella Maris Inst, Pisa, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsVleugels, Wendy论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Human Genet, Louvain, Belgium Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsMercuri, Eugenio论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Dept Pediat Neurol, I-00168 Rome, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsGarozzo, Domenico论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Chem & Technol Polymers, Catania, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsSturiale, Luisa论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Chem & Technol Polymers, Catania, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsMessina, Sonia论文数: 0 引用数: 0 h-index: 0机构: Magna Graecia Univ Catanzaro, Dept Pediat, Catanzaro, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsJaeken, Jaak论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven Hosp, Dept Pediat, Ctr Metab Dis, Louvain, Belgium Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsFiumara, Agata论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Catania, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Lab Genet Endocrine & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Mol Med Lab, Rome, Italy Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsMatthijs, Gert论文数: 0 引用数: 0 h-index: 0机构: Univ Leuven, Ctr Human Genet, Louvain, Belgium Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, NetherlandsLefeber, Dirk J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, Netherlands Univ Catania, Dept Pediat, Catania, Italy Radboud Univ Nijmegen, Dept Pediat, Med Ctr, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Lab Genet Endocrine & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, NL-6525 GA Nijmegen, Netherlands
- [8] Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappaJOURNAL OF AAPOS, 2018, 22 (03): : 242 - 244Peiris, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Rutgers New Jersey Med Sch, Newark, NJ USA Rutgers New Jersey Med Sch, Newark, NJ USAIndaram, Maanasa论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Boston, MA USA Rutgers New Jersey Med Sch, Newark, NJ USAKoo, Euna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Boston, MA USA Rutgers New Jersey Med Sch, Newark, NJ USASoul, Janet S.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Harvard Med Sch, Dept Neurol, Boston, MA USA Rutgers New Jersey Med Sch, Newark, NJ USAHunter, David G.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Ophthalmol, 300 Longwood Ave, Boston, MA 02115 USA Harvard Med Sch, Dept Ophthalmol, Boston, MA USA Rutgers New Jersey Med Sch, Newark, NJ USA
- [9] Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1JOURNAL OF CELLULAR AND MOLECULAR MEDICINE, 2017, 21 (07) : 1388 - 1393Hu, Pengzhi论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaWu, Song论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Orthoped, Xiangya Hosp 3, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaYuan, Lamei论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaLin, Qiongfen论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaZheng, Wen论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaXia, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaXu, Hongbo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaGuan, Liping论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R ChinaDeng, Hao论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha, Hunan, Peoples R China
- [10] Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1European Journal of Human Genetics, 1999, 7 : 633 - 637Rémi Dufourcq-Lagelouse论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Nathalie Lambert论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Michel Duval论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Géraldine Viot论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Etienne Vilmer论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Alain Fischer论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Marguerite Prieur论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,Geneviève de Saint Basile论文数: 0 引用数: 0 h-index: 0机构: Unité de Recherches sur le développement normal et pathologique du système immunitaire INSERM U429,