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- [22] An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (11) : 1959 - 1975Mah-Som, Annelise Y.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Genet Training Program, Boston, MA 02115 USA Brigham & Womens Hosp, Boston, MA 02115 USA Washington Univ, Div Genet & Genom Med, St Louis, MO 63110 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USADaw, Jil论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAHuynh, Diana论文数: 0 引用数: 0 h-index: 0机构: CALTECH, Div Biol & Biol Engn, Pasadena, CA 91125 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAWu, Mengcheng论文数: 0 引用数: 0 h-index: 0机构: CALTECH, Div Chem & Chem Engn, Pasadena, CA 91125 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USACreekmore, Benjamin C.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USABurns, William论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASkinner, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAHolla, Oystein L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp, Dept Med Genet, Skien, Norway Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASmeland, Marie F.论文数: 0 引用数: 0 h-index: 0机构: Univ Norway, Univ Hosp North Norway & Arctic, Dept Pediat Rehabil, Tromso, Norway Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAPlanes, Marc论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Serv Genet Med & Biol Reprod, Brest, France CHU Brest, Ctr Reference Deficiences Intellectuelles, Serv Pediat, Brest, France Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAUguen, Kevin论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Serv Genet Med & Biol Reprod, Brest, France CHU Brest, Ctr Reference Deficiences Intellectuelles, Serv Pediat, Brest, France GGB, INSERM, EFS, UMR 1078, F-29200 Brest, France Harvard Med Sch, Genet Training Program, Boston, MA 02115 USARedon, Sylvia论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Serv Genet Med & Biol Reprod, Brest, France CHU Brest, Ctr Reference Deficiences Intellectuelles, Serv Pediat, Brest, France GGB, INSERM, EFS, UMR 1078, F-29200 Brest, France Harvard Med Sch, Genet Training Program, Boston, MA 02115 USABierhals, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAScholz, Tasja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Harvard Med Sch, Genet Training Program, Boston, MA 02115 USADenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, D-20251 Hamburg, Germany Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAMensah, Martin A.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, D-10117 Berlin, Germany Free Univ Berlin, D-10117 Berlin, Germany Humboldt Univ, D-10117 Berlin, Germany Charite Univ Med Berlin, BIH Biomed Innovat Acad, Berlin Inst Hlth, D-10117 Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, D-14195 Berlin, Germany Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASczakiel, Henrike L.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, D-10117 Berlin, Germany Free Univ Berlin, D-10117 Berlin, Germany Humboldt Univ, D-10117 Berlin, Germany Charite Univ Med Berlin, BIH Biomed Innovat Acad, Berlin Inst Hlth, D-10117 Berlin, Germany Max Planck Inst Mol Genet, RG Dev & Dis, D-14195 Berlin, Germany Harvard Med Sch, Genet Training Program, Boston, MA 02115 USATichy, Heidelis论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Inst Human Genet, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAVerheyen, Sarah论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Inst Human Genet, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria Harvard Med Sch, Genet Training Program, Boston, MA 02115 USABlatterer, Jasmin论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Inst Human Genet, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASchreiner, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Inst Human Genet, Diagnost & Res Ctr Mol BioMed, A-8010 Graz, Austria Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAThies, Jenny论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Div Genet Med, Seattle, WA 98105 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USALam, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Sch Med, Seattle, WA 98195 USA Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98105 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASpaeth, Christine G.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Div Human Genet, Cincinnati, OH 45229 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAPena, Loren论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45267 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USARamsey, Keri论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Ctr Rare Childhood Disorders, Phoenix, AZ 85004 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USANarayanan, Vinodh论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Ctr Rare Childhood Disorders, Phoenix, AZ 85004 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USASeaver, Laurie H.论文数: 0 引用数: 0 h-index: 0机构: Michigan State Univ, Corewell Hlth, Dept Pediat & Human Dev, Coll Human Med,Helen Devos Childrens Hosp, Grand Rapids, MI 49503 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Afenjar, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Armand Trousseau Hosp, AP HP, Cerebellar Malformat & Congenital Dis Reference C, F-75006 Paris, France Sorbonne Univ, Armand Trousseau Hosp, Dept Genet, Neurogenet Lab, F-75006 Paris, France Harvard Med Sch, Genet Training Program, Boston, MA 02115 USA论文数: 引用数: h-index:机构:Lee, Edward B.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAChou, Tsui-Fen论文数: 0 引用数: 0 h-index: 0机构: CALTECH, Div Biol & Biol Engn, Pasadena, CA 91125 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAWeihl, Conrad C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USAShinawi, Marwan S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Div Genet & Genom Med, St Louis, 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