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- [35] Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (01) : 65 - 74Lehman, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaThouta, Samrat论文数: 0 引用数: 0 h-index: 0机构: Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaMancini, Grazia M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada论文数: 引用数: h-index:机构:van Slegtenhorst, Marjon论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaMwenifumbo, Jill论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaSalvarinova, Ramona论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Biochem Dis, Dept Pediat, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaGuella, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaMcKenzie, Marna B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaDatta, Anita论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Pediat Neurol, Dept Pediat, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaConnolly, Mary B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Pediat Neurol, Dept Pediat, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaKalkhoran, Somayeh Mojard论文数: 0 引用数: 0 h-index: 0机构: Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada论文数: 引用数: h-index:机构:Friedman, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaFarrer, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Appl Neurogenet, Vancouver, BC V6T 1Z3, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaDemos, Michelle论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Pediat Neurol, Dept Pediat, Vancouver, BC V6H 3N1, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaDesai, Sonal论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD 21211 USA Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, CanadaClaydon, Thomas论文数: 0 引用数: 0 h-index: 0机构: Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada
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BrazilMoshiri, Ala论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Sch Med, Dept Ophthalmol & Vis Sci, Sacramento, CA 95817 USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilWillis, Brandon论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Mouse Biol Program, Davis, CA 95616 USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilLanoue, Louise论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Mouse Biol Program, Davis, CA 95616 USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilBower, Lynette论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Mouse Biol Program, Davis, CA 95616 USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilLeonard, Brian C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Sch Vet Med, Dept Surg & Radiol Sci, Davis, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil论文数: 引用数: h-index:机构:Gomes, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazilde Souza Leite, Felipe论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilOliveira, Danyllo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilKitajima, Joao Paulo论文数: 0 引用数: 0 h-index: 0机构: Mendelics, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilMonteiro, Fabiola P.论文数: 0 引用数: 0 h-index: 0机构: Mendelics, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilZatz, Mayana论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilMenck, Carlos Frederico Martins论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilWheeler, Matthew T.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Cardiovasc Med, Dept Med, Sch Med, Stanford, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilBernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Med Genet, Dept Pediat, Sch Med, Stanford, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilDumas, Kevin论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pathol, Clin Genom Program, Stanford, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilSpiteri, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pathol, Clin Genom Program, Stanford, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Hashem, Mais论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilAlsaif, Hessa S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilChedrawi, Aziza论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh, Saudi Arabia Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh, Saudi Arabia Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilKok, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Mendelics, Sao Paulo, SP, Brazil Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, BrazilByers, Heather M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Med Genet, Dept Pediat, Sch Med, Stanford, CA USA Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil