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- [41] Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorderMolecular Autism, 11Nadja T. Hofer论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesPetronel Tuluc论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesNadine J. Ortner论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesYuliia V. Nikonishyna论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesMonica L. Fernándes-Quintero论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesKlaus R. Liedl论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesBernhard E. Flucher论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesHelen Cox论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular BiosciencesJörg Striessnig论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Centre for Molecular Biosciences
- [42] A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizuresEPILEPTIC DISORDERS, 2014, 16 (02) : 227 - 231Jingami, Naoto论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Ito, Hirotaka论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Ihara, Yukiko论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Cent Res Inst Mol Pathomech Epilepsy, Fukuoka 81401, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, JapanHirose, Shinichi论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan Fukuoka Univ, Sch Med, Cent Res Inst Mol Pathomech Epilepsy, Fukuoka 81401, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, JapanIkeda, Akio论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Epilepsy Movement Disorders & Physiol, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, JapanTakahashi, Ryosuke论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Neurol, Kyoto 6068507, Japan
- [43] Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorderMOLECULAR AUTISM, 2020, 11 (01)Hofer, Nadja T.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaTuluc, Petronel论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaOrtner, Nadine J.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaNikonishyna, Yuliia V.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaFernandes-Quintero, Monica L.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Inst Gen Inorgan & Theoret Chem, Ctr Mol Biosci, Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaLiedl, Klaus R.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Inst Gen Inorgan & Theoret Chem, Ctr Mol Biosci, Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaFlucher, Bernhard E.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Div Physiol, Dept Physiol & Med Phys, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaCox, Helen论文数: 0 引用数: 0 h-index: 0机构: Natl Hlth Serv Fdn Trust, Birmingham Womens & Childrens Hosp, West Midlands Reg Clin Genet Serv, Birmingham B15 2TG, W Midlands, England Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, AustriaStriessnig, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria Univ Innsbruck, Ctr Mol Biosci, Dept Pharmacol & Toxicol, Innrain 80-82, A-6020 Innsbruck, Austria
- [44] Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental DisorderGENES, 2021, 12 (08)Di Muro, Ester论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyPalumbo, Pietro论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyBenvenuto, Mario论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyAccadia, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Cardinale G Pan, Med Genet Serv, I-73039 Lecce, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyDi Giacomo, Marilena Carmela论文数: 0 引用数: 0 h-index: 0机构: AOR Osped San Carlo, UOC Anat Patol, I-85100 Potenza, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyManieri, Sergio论文数: 0 引用数: 0 h-index: 0机构: AOR Osped San Carlo, UOC Pediat, I-85100 Potenza, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyAbate, Rosaria论文数: 0 引用数: 0 h-index: 0机构: AOR Osped San Carlo, UOC Pediat, I-85100 Potenza, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyTagliente, Maria论文数: 0 引用数: 0 h-index: 0机构: AOR Osped San Carlo, UOC Pediat, I-85100 Potenza, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyCastellana, Stefano论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Unit Bioinformat, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyMazza, Tommaso论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Unit Bioinformat, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyCarella, Massimo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, ItalyPalumbo, Orazio论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy Fdn IRCCS Casa Sollievo della Sofferenza, Div Med Genet, I-71013 Foggia, Italy
- [45] LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumNEUROLOGY-GENETICS, 2020, 6 (05)Neuhofer, Christiane M.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanyCatarino, Claudia B.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanySchmidt, Heinrich论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dr von Haunersches Kinderspital, Med Genet,Dept Pediat, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanySeelos, Klaus论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neuroradiol, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanyAlhaddad, Bader论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanyHaack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, GermanyKlopstock, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, Germany German Ctr Neurodegenerat Dis DZNE, Munich, Germany Munich Cluster Syst Neurol SyNergy, Munich, Germany Ludwig Maximilians Univ Munchen, Univ Hosp, Dept Neurol, Friedrich Baur Inst, Munich, Germany
- [46] Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2MOLECULAR SYNDROMOLOGY, 2018, 9 (04) : 190 - 196Letard, Pascaline论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceSchepers, Dorien论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Med Genet, Antwerp, Belgium Univ Antwerp Hosp, Antwerp, Belgium Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceAlbuisson, Juliette论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, AP HP, Dept Genet, Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceBruneval, Patrick论文数: 0 引用数: 0 h-index: 0机构: Hop Europeen Georges Pompidou, AP HP, Serv Anat & Cytol Pathol, Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceSpaggiari, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceVan de Beek, Gerarda论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Ctr Med Genet, Antwerp, Belgium Univ Antwerp Hosp, Antwerp, Belgium Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceKhung-Savatovsky, Suonavy论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceBelarbi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Serv Radiol Pediat, Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceCapri, Yline论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Genet Clin, Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, FranceDelezoide, Anne-Lise论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France论文数: 引用数: h-index:机构:Guimiot, Fabien论文数: 0 引用数: 0 h-index: 0机构: Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France Hop Robert Debre, Dept Genet, Unite Fonct Foetopathol, 48 Blvd Serurier, FR-75019 Paris, France
- [47] Autopsy findings in a patient with a severe neurodevelopmental disorder due to compound heterozygous mutations in PNPT1JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2024, 83 (06): : 463 - 464Perez, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USATerry, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USAGuney, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USAChan, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USAMargeta, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA Univ Calif San Francisco, San Francisco, CA 94143 USA
- [48] Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosisMEDICAL MOLECULAR MORPHOLOGY, 2023, 56 (03) : 233 - 238Hu, Jing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R ChinaLi, Yuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R ChinaZhang, Li论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R ChinaPeng, Guangxin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R ChinaZhang, Fengkui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R ChinaZhao, Xin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Blood Dis Hosp, Tianjin 300020, Peoples R China Tianjin Inst Hlth Sci, Tianjin 301600, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Natl Clin Res Ctr Blood Dis, Inst Hematol, Haihe Lab Cell Ecosyst, Tianjin 300020, Peoples R China
- [49] Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosisMedical Molecular Morphology, 2023, 56 : 233 - 238Jing Hu论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases HospiYuan Li论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases HospiLi Zhang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases HospiGuangxin Peng论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases HospiFengkui Zhang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases HospiXin Zhao论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospi
- [50] Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES mutationNEUROLOGY, 2021, 96 (15)Beecher, Grayson论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USATang, Connie论文数: 0 引用数: 0 h-index: 0机构: Boston Univ, Neurol, Boston, MA 02215 USA Mayo Clin, Rochester, MN USALiewluck, Teerin论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USA