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- [1] ARX gene mutations[J]. REVISTA DE NEUROLOGIA, 2009, 48 (10) : 560 - 560Fernandez-Fernandez, M. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, SpainRufo-Campos, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, SpainMadruga-Garrido, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, SpainBlanco-Martinez, B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, SpainCandau Fernandez-Mensaque, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain Hosp Univ Infantil Virgen Rocio, Unidad Neuropediat, E-41013 Seville, Spain
- [2] Expanding the Clinical Phenotype of Ataxia Associated with PMPCA Mutations[J]. MOVEMENT DISORDERS, 2023, 38 : S331 - S332Sanesteban Beceiro, E.论文数: 0 引用数: 0 h-index: 0Fernandez Revuelta, A.论文数: 0 引用数: 0 h-index: 0Garcia-Ramos, R.论文数: 0 引用数: 0 h-index: 0Lopez Valdes, E.论文数: 0 引用数: 0 h-index: 0Fenollar Cortes, M.论文数: 0 引用数: 0 h-index: 0Alonso Frech, F.论文数: 0 引用数: 0 h-index: 0
- [3] Male-female phenotype correlation and dissociation related to mutations in the ARX gene[J]. JOURNAL OF MEDICAL GENETICS, 2024,Li, Chumei Li论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Dept Pediat, Hamilton, ON, Canada McMaster Univ, Med Ctr, Dept Pediat, Hamilton, ON, Canada
- [4] Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation[J]. HUMAN MUTATION, 2004, 23 (02) : 147 - 159Kato, M论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USADas, S论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAPetras, K论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAKitamura, K论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAMorohashi, KI论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAAbuelo, DN论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USABarr, M论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USABonneau, D论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USABrady, AF论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USACarpenter, NJ论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USACipero, KL论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAFrisone, F论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAFukuda, T论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAGuerrini, R论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAIida, E论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAItoh, M论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USALewanda, AF论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USANanba, Y论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAOka, A论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAProud, VK论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASaugier-Veber, P论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASchelley, SL论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASelicorni, A论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAShaner, R论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASilengo, M论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAStewart, F论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USASugiyama, N论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAToyama, J论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAToutain, A论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAVargas, AL论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAYanazawa, M论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USAZackai, EH论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USADobyns, WB论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA
- [5] Expanding the phenotype of GMPPB mutations[J]. BRAIN, 2015, 138 : 836 - 844Cabrera-Serrano, Macarena论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, Australia Univ Seville, CSIC, Inst Biomed Sevilla, Hosp Univ Virgen del Rocio, Seville, Spain Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaGhaoui, Roula论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaRavenscroft, Gianina论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaJohnsen, Russell D.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Univ, Ctr Comparat Genom, Perth, WA, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaDavis, Mark R.论文数: 0 引用数: 0 h-index: 0机构: Pathwest Lab Med WA, Dept Diagnost Genom, Perth, WA, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaCorbett, Alastair论文数: 0 引用数: 0 h-index: 0机构: Concord Repatriat Gen Hosp, Dept Neurol, Sydney, NSW, Australia Sydney Med Sch, Sydney, NSW, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaReddel, Stephen论文数: 0 引用数: 0 h-index: 0机构: Concord Repatriat Gen Hosp, Dept Neurol, Sydney, NSW, Australia Sydney Med Sch, Sydney, NSW, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaSue, Carolyn M.论文数: 0 引用数: 0 h-index: 0机构: Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaLiang, Christina论文数: 0 引用数: 0 h-index: 0机构: Royal N Shore Hosp, Dept Neurol, Sydney, NSW, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaWaddell, Leigh B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaKaur, Simranpreet论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaLek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic 3010, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaLamont, Phillipa J.论文数: 0 引用数: 0 h-index: 0机构: Royal Perth Hosp, Dept Neurol, Neurogenet Unit, Perth, WA 6001, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, AustraliaLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, Australia Univ Western Australia, Med Res Ctr, Harry Perkins Inst Med Res, Perth, WA 6009, Australia
- [6] A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease[J]. JOURNAL OF THE ENDOCRINE SOCIETY, 2021, 5 (02)Zeiad, Rawah K. H. M.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAFerren, Edwin C.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAYoung, Denise D.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Gastroenterol Hepatol & Nutr, Rainbow Babies & Childrens Hosp, Univ Hosp,Cleveland Med Ctr,Dept Pediat,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USADe Lancy, Shanelle J.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USADedousis, Demitrios论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USASchillaci, Lori-Anne论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USARedline, Raymond W.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USASaab, Shahrazad T.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Dept Pathol, Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USACrespo, Maricruz论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Gastroenterol Hepatol & Nutr, Rainbow Babies & Childrens Hosp, Univ Hosp,Cleveland Med Ctr,Dept Pediat,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USABhatti, Tricia R.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Dept Pathol & Lab, Perelman Sch Med, Philadelphia, PA 19104 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAAckermann, Amanda M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Div Endocrinol & Diabet,Perelman Sch Med, Philadelphia, PA 19104 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USABedoyan, Jirair K.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Rainbow Babies & Childrens Hosp, Dept Genet & Genome Sci, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Rainbow Babies & Childrens Hosp, Ctr Human Genet, Univ Hosp,Cleveland Med Ctr,Sch Med, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USAWood, Jamie R.论文数: 0 引用数: 0 h-index: 0机构: Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA Case Western Univ, Div Pediat Endocrinol, Rainbow Babies & Childrens Hosp, Sch Med,Dept Pediat,Univ Hosp,Cleveland Med Ctr, Cleveland, OH 44106 USA
- [7] Delineating the expanding phenotype associated with SCAPER gene mutation[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (08) : 1665 - 1671Fasham, James论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Royal Devon & Exeter Hosp Heavitree, Peninsula Clin Genet Serv, Exeter, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England论文数: 引用数: h-index:机构:Lin, Siying论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandXu, Mingchu论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandCarss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, NHS Blood & Transplant Ctr, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England论文数: 引用数: h-index:机构:Lane, Amelia论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandRobson, Anthony G.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandWenger, Olivia论文数: 0 引用数: 0 h-index: 0机构: Clin Special Children, New Leaf Ctr, Mt Eaton, OH USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandSelf, Jay E.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Fac Med, Clin & Expt Sci, Southampton, Hants, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandHarlalka, Gaurav V.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandSalter, Claire G.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandSchema, Lynn论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Med Ctr Fairview, Div Genet & Metab, Minneapolis, MN USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandMoss, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Div Genet & Metab, Minneapolis, MN 55455 USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandCheetham, Michael E.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandMoore, Anthony T.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London, England Univ Calif San Francisco, Sch Med, Dept Ophthalmol, Koret Vis Ctr, San Francisco, CA USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandRaymond, F. Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge, England Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandChen, Rui论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandBaple, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Royal Devon & Exeter Hosp Heavitree, Peninsula Clin Genet Serv, Exeter, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, EnglandCrosby, Andrew H.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England Univ Exeter, Sch Med, Royal Devon & Exeter NHS Fdn Trust, Med Res,RILD Wellcome Wolfson Ctr, Barrack Rd, Exeter EX2 5DW, Devon, England
- [8] The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients[J]. ANNALS OF NEUROLOGY, 1996, 40 (06) : 912 - 917Ikeda, M论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADASharma, V论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADASumi, M论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADARogaeva, EA论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAPoorkaj, P论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADASherrington, R论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADANee, L论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADATsuda, T论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAOda, N论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAWatanabe, M论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAAoki, M论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAShoji, M论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAAbe, K论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAItoyama, Y论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAHirai, S论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADASchellenberg, GD论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADABird, TD论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADAStGeorgeHyslop, PH论文数: 0 引用数: 0 h-index: 0机构: TORONTO HOSP,DEPT MED,TORONTO,ON M5T 2S8,CANADA
- [9] Missense mutations in a conserved region of the acid α-glucosidase gene:: genotype-phenotype.[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A252 - A252Huie, ML论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USATsujino, S论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USABeesley, C论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USABonthron, D论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USAEngel, A论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USAShanske, S论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USADiMauro, S论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USAHirschhorn, R论文数: 0 引用数: 0 h-index: 0机构: NYU, Med Ctr, New York, NY 10016 USA
- [10] Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2023, 66 (03)Poole, Rebecca L.论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, ST4 Clin Genet, Crewe Rd South, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandBadonyi, Mihaly论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Inst Genet & Canc, MRC, Human Genet Unit, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandCozens, Alison论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Children & Young People, 50 Little France Crescent, Edinburgh EH16 4TJ, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandFoulds, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton, England Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandMarsh, Joseph A.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Inst Genet & Canc, MRC, Human Genet Unit, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandRahman, Shamima论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Dept, London WC1N 1EH, England Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandRoss, Alison论文数: 0 引用数: 0 h-index: 0机构: Aberdeen Royal Infirm, Clin Genet Ctr, North Scotland Reg Genet Serv, Ashgrove House, Aberdeen AB25 2ZA, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandSchooley, Joanna论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton, England Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandStraub, Volker论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne NE1 3BZ, England Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne NE1 3BZ, England Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandQuigley, Alan J.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Children & Young People, Paediat Imaging Dept, 50 Little France Crescent, Edinburgh EH16 4TJ, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandFitzPatrick, David论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Inst Genet & Canc, MRC, Human Genet Unit, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, ScotlandLampe, Anne论文数: 0 引用数: 0 h-index: 0机构: Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, Scotland Western Gen Hosp, South East Scotland Clin Genet Serv, Crewe Rd South, Edinburgh EH4 2XU, Scotland