共 50 条
- [21] Palmoplantar keratoderma and deafness: a de novo autosomal dominant mutation in the GJB2 gene encoding connexin 26BRITISH JOURNAL OF DERMATOLOGY, 2011, 165 : 127 - 127Ferguson, J.论文数: 0 引用数: 0 h-index: 0机构: Kingston Hosp NHS Trust, Dept Dermatol, London, England Kingston Hosp NHS Trust, Dept Dermatol, London, EnglandNatkunarajah, J.论文数: 0 引用数: 0 h-index: 0机构: Kingston Hosp NHS Trust, Dept Dermatol, London, England Kingston Hosp NHS Trust, Dept Dermatol, London, EnglandJones, W.论文数: 0 引用数: 0 h-index: 0机构: St Georges Healthcare NHS Trust, SW Thames Reg Genet Unit, London, England Kingston Hosp NHS Trust, Dept Dermatol, London, EnglandSaggar, A. K.论文数: 0 引用数: 0 h-index: 0机构: St Georges Healthcare NHS Trust, SW Thames Reg Genet Unit, London, England Kingston Hosp NHS Trust, Dept Dermatol, London, EnglandBitner-Glindzicz, M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Clin & Mol Genet Unit, London, England Great Ormond St Hosp Sick Children, London WC1N 3JH, England Kingston Hosp NHS Trust, Dept Dermatol, London, EnglandViros, A.论文数: 0 引用数: 0 h-index: 0机构: Kingston Hosp NHS Trust, Dept Dermatol, London, England Kingston Hosp NHS Trust, Dept Dermatol, London, England
- [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, MO 63110 USA Harvard Med Sch, Genet Training Program, Boston, MA 02115 USA
- [23] Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsyANNALS OF NEUROLOGY, 2018, 83 (03) : 483 - 493Dazzo, Emanuela论文数: 0 引用数: 0 h-index: 0机构: CNR, Sect Padua, Neurosci Inst, Padua, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyRehberg, Kati论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, UMC Utrecht, Utrecht, Netherlands CNR, Sect Padua, Neurosci Inst, Padua, ItalyMichelucci, Roberto论文数: 0 引用数: 0 h-index: 0机构: Bellaria Hosp, IRCCS Inst Neurol Sci Bologna, Neurol Unit, Bologna, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyPassarelli, Daniela论文数: 0 引用数: 0 h-index: 0机构: Infermi Hosp, Div Neurol, Faenza, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyBoniver, Clementina论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Pediat, Clin Neurophysiol, Padua, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyDri, Valeria Vianello论文数: 0 引用数: 0 h-index: 0机构: APSS Trento, Dept Mental Hlth, Child & Adolescent Neuropsichiat 1, Trento, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyStriano, Pasquale论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, G Gaslini Inst, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Pediat Neurol & Muscular Dis Unit, Genoa, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyStriano, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Neurol Sci, Naples, Italy CNR, Sect Padua, Neurosci Inst, Padua, ItalyPasterkamp, R. Jeroen论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Dept Translat Neurosci, Brain Ctr Rudolf Magnus, UMC Utrecht, Utrecht, Netherlands CNR, Sect Padua, Neurosci Inst, Padua, Italy论文数: 引用数: h-index:机构:
- [24] Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degenerationAMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) : 174 - 180Hejtmancik, J. Fielding论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USAJiao, Xiaodong论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USALi, Anren论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USASergeev, Yuri V.论文数: 0 引用数: 0 h-index: 0机构: NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USADing, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: NEI, Immunol Lab, NIH, Bethesda, MD 20892 USA Sun Yat sen Univ, State Key Lab Ophthalmol 5, Zhongshan Ophthalm Ctr, Guangzhou 510060, Peoples R China NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USASharma, Anil K.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Ophthalmol, Rochester, MN 55905 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USAChan, Chi-Chao论文数: 0 引用数: 0 h-index: 0机构: NEI, Immunol Lab, NIH, Bethesda, MD 20892 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA论文数: 引用数: h-index:机构:Edwards, Albert O.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Coll Med, Dept Ophthalmol, Rochester, MN 55905 USA NEI, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA
- [25] Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathologyNEURON, 2004, 44 (04) : 601 - 607Zimprich, A论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyBiskup, S论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyLeitner, P论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyLichtner, P论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyFarrer, M论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyLincoln, S论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyKachergus, J论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyHulihan, M论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyUitti, RJ论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyCalne, DB论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyStoessl, AJ论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyPfeiffer, RF论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyPatenge, N论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyCarbajal, IC论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyVieregge, P论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyAsmus, F论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyMüller-Myhsok, B论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyDickson, DW论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyMeitinger, T论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, Germany GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyStrom, TM论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyWszolek, ZK论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, GermanyGasser, T论文数: 0 引用数: 0 h-index: 0机构: GSF, Natl Res Ctr Environm & Hlth, Inst Human Genet, D-85764 Neuherberg, Germany
- [26] Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyAMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) : 248 - 253Poulter, James A.论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandAli, Manir论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandGilmour, David F.论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandRice, Aine论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandKondo, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Fukuoka Univ, Sch Med, Dept Ophthalmol, Fukuoka 8140180, Japan St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandHayashi, Kenshi论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Med Inst Bioregulat, Div Genome Anal, Fukuoka 8128582, Japan St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMackey, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Ctr Ophthalmol & Visual Sci, Lions Eye Inst, Perth, WA 6009, Australia Univ Melbourne, Dept Ophthalmol, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandKearns, Lisa S.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Ophthalmol, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandRuddle, Jonathan B.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Dept Ophthalmol, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandCraig, Jamie E.论文数: 0 引用数: 0 h-index: 0机构: Flinders Med Ctr, Dept Ophthalmol, Adelaide, SA 5042, Australia St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandPierce, Eric A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Scheie Eye Inst, FM Kirby Ctr Mol Ophthalmol, Philadelphia, PA 19104 USA St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandDowney, Louise M.论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England Hull Royal Infirm, Dept Ophthalmol, Kingston Upon Hull HU3 2JZ, N Humberside, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMohamed, Moin D.论文数: 0 引用数: 0 h-index: 0机构: St Thomas Hosp, Dept Ophthalmol, London SE1 7EH, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandMarkham, Alexander F.论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandInglehearn, Chris F.论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, EnglandToomes, Carmel论文数: 0 引用数: 0 h-index: 0机构: St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England St James Hosp, Leeds Inst Mol Med, Leeds LS9 7TF, W Yorkshire, England
- [27] SCN11A GENE MUTATION AS THE CAUSE OF AUTOSOMAL-DOMINANT EPISODIC PAIN IN A 3-GENERATION FAMILYJOURNAL OF INVESTIGATIVE MEDICINE, 2015, 63 (01) : 147 - 147Macmurdo, C. F.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Stanford Univ, Sch Med, Stanford, CA 94305 USAGong, P.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Stanford Univ, Sch Med, Stanford, CA 94305 USAHanson-Kahn, A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Stanford Univ, Sch Med, Stanford, CA 94305 USABernstein, J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Stanford Univ, Sch Med, Stanford, CA 94305 USA
- [28] Novel MIP gene mutation causes autosomal-dominant congenital cataractINTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2024, 17 (03) : 454 - 465Ni, Jing-Lan论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaWen, Hua-Ming论文数: 0 引用数: 0 h-index: 0机构: Dongguan Changan Hosp, Dept Ophthalmol, Dongguan 523843, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaHuang, Xiao-Sheng论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen Eye Inst, Shenzhen 518040, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaLi, Qian-Wen论文数: 0 引用数: 0 h-index: 0机构: Shenzhen Univ, Shenzhen Stomatol Hosp, Dept Oral & Maxillofacial Surg, Shenzhen 518040, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaCai, Jia-Min论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen Eye Inst, Shenzhen 518040, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaFan, Bao-Jian论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurosurg, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R ChinaZhao, Jun论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Peoples Hosp, Clin Med Coll 2, Dept Ophthalmol, Shenzhen 518020, Guangdong, Peoples R China Southern Univ Sci & Technol, Affiliated Hosp 1, Shenzhen 518020, Guangdong, Peoples R China Jinan Univ, Clin Med Coll 2, Shenzhen 518020, Guangdong, Peoples R China
- [29] MUTATION OF THE PAX6 GENE IN PATIENTS WITH AUTOSOMAL-DOMINANT KERATITISAMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 236 - 236WALTER, MA论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADA UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADAMIRZAYANS, F论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADA UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADAMACDONALD, IM论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADA UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADAPEARCE, WG论文数: 0 引用数: 0 h-index: 0机构: UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADA UNIV ALBERTA,DEPT OPHTHALMOL,EDMONTON,AB,CANADA
- [30] A NEW AUTOSOMAL-DOMINANT SYNDROME LINKED TO THE FBN2 GENEAMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 276 - 276BAY, C论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHMIKESELL, H论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHANKERMAN, L论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHMCCULLOUGH, C论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHBURKE, L论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHPYERITZ, R论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHPUTNAM, E论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OHMILEWICZ, D论文数: 0 引用数: 0 h-index: 0机构: NE OHIO UNIV,TOD CHILDREN HOSP,COLL MED,YOUNGSTOWN,OH