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- [1] De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial featuresEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1093 - 1094Gordon, C. T.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceMak, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China INSERM, U1163, Inst Imagine, Paris, France论文数: 引用数: h-index:机构:Lin, A.论文数: 0 引用数: 0 h-index: 0机构: MassGen Hosp Children, Boston, MA USA INSERM, U1163, Inst Imagine, Paris, FranceVegas, N.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceCho, M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA INSERM, U1163, Inst Imagine, Paris, FranceViot, G.论文数: 0 引用数: 0 h-index: 0机构: Hop Cochin, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceDimartino, C.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceWeisfeld-Adams, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Aurora, CO USA INSERM, U1163, Inst Imagine, Paris, FranceLessel, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Hamburg, Germany INSERM, U1163, Inst Imagine, Paris, FranceJoss, S.论文数: 0 引用数: 0 h-index: 0机构: West Scotland Reg Genet Serv, Glasgow, Lanark, Scotland INSERM, U1163, Inst Imagine, Paris, FranceLi, C.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada INSERM, U1163, Inst Imagine, Paris, FranceGonzaga-Jauregui, C.论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA INSERM, U1163, Inst Imagine, Paris, FranceZarate, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Arkansas Med Sci, Little Rock, AR 72205 USA INSERM, U1163, Inst Imagine, Paris, FranceHorn, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Med Genet & Humangenet, Berlin, Germany INSERM, U1163, Inst Imagine, Paris, FranceTroyer, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Charlottesville, VA USA INSERM, U1163, Inst Imagine, Paris, FranceKant, S.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Leiden, Netherlands INSERM, U1163, Inst Imagine, Paris, FranceLeung, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China INSERM, U1163, Inst Imagine, Paris, FranceBarone, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA INSERM, U1163, Inst Imagine, Paris, FranceYang, S.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA INSERM, U1163, Inst Imagine, Paris, FranceBend, E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA INSERM, U1163, Inst Imagine, Paris, FranceRoadhouse, C.论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada INSERM, U1163, Inst Imagine, Paris, FranceZahir, F.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada INSERM, U1163, Inst Imagine, Paris, FranceStolerman, E.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA INSERM, U1163, Inst Imagine, Paris, FranceBienvenu, T.论文数: 0 引用数: 0 h-index: 0机构: Inst Cochin, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceOrenstein, N.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Tel Aviv, Israel INSERM, U1163, Inst Imagine, Paris, FranceDobyns, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA INSERM, U1163, Inst Imagine, Paris, FranceShieh, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, San Francisco, CA 94143 USA INSERM, U1163, Inst Imagine, Paris, FranceWaggoner, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Chicago, IL 60637 USA INSERM, U1163, Inst Imagine, Paris, FranceGripp, K.论文数: 0 引用数: 0 h-index: 0机构: AI duPont Hosp Children Nemours, Wilmington, DE USA INSERM, U1163, Inst Imagine, Paris, FranceParker, M.论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens Hosp, Sheffield, S Yorkshire, England INSERM, U1163, Inst Imagine, Paris, FranceStoler, J.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA INSERM, U1163, Inst Imagine, Paris, FranceLyonnet, S.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceCormier-Daire, V.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceViskochil, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Salt Lake City, UT USA INSERM, U1163, Inst Imagine, Paris, FranceHoffman, T.论文数: 0 引用数: 0 h-index: 0机构: Southern Calif Kaiser Permanente Med Grp, Anaheim, CA USA INSERM, U1163, Inst Imagine, Paris, FranceAmiel, J.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Inst Imagine, Paris, France INSERM, U1163, Inst Imagine, Paris, FranceChung, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, Hong Kong, Peoples R China INSERM, U1163, Inst Imagine, Paris, France
- [2] MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisBRAIN, 2020, 143 : 55 - 68Mak, Christopher C. Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China论文数: 引用数: h-index:机构:Lin, Angela E.论文数: 0 引用数: 0 h-index: 0机构: MassGen Hosp Children, Med Genet, Boston, MA 02114 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaVegas, Nancy论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Imagine, Lab Embryol & Genet Human Malformat, UMR 1163, F-75015 Paris, France Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, F-75015 Paris, France Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaCho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaViot, Geraldine论文数: 0 引用数: 0 h-index: 0机构: HUPC, AP HP, Hop Cochin, Gynecol Obstet, F-75014 Paris, France Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaDimartino, Clemantine论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Imagine, Lab Embryol & Genet Human Malformat, UMR 1163, F-75015 Paris, France Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, F-75015 Paris, France Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaWeisfeld-Adams, James D.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Denver Sch Med, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO 80045 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaJoss, Shelagh论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Reg Genet Serv, Glasgow G51 4TF, Lanark, Scotland Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLi, Chumei论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaGonzaga-Jauregui, Claudia论文数: 0 引用数: 0 h-index: 0机构: Regeneron Pharmaceut Inc, Regeneron Genet Ctr, 777 Old Saw Mill River Rd, Tarrytown, NY 10591 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaZarate, Yuri A.论文数: 0 引用数: 0 h-index: 0机构: Univ Arkansas Med Sci, Arkansas Childrens Hosp, Sect Genet & Metab, Little Rock, AR 72202 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaEhmke, Nadja论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaHorn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, D-13353 Berlin, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaTroyer, Caitlin论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia Hlth Syst, Pediat & Med Genet, Charlottesville, VA USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaKant, Sarina G.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, NL-2300 RC Leiden, Netherlands Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLee, Youngha论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Dept Biomed Sci, Coll Med, Seoul, South Korea Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaIshak, Gisele E.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA Univ Washington, Dept Radiol, Seattle, WA 98195 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLeung, Gordon论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaPritchard, Amanda Barone论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaYang, Sandra论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaBend, Eric G.论文数: 0 引用数: 0 h-index: 0机构: Greenwood Genet Ctr, Greenwood, SC 29646 USA PreventionGenetics, Marshfield, WI 54449 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaFilippini, Francesca论文数: 0 引用数: 0 h-index: 0机构: INSERM, Inst Imagine, Lab Embryol & Genet Human Malformat, UMR 1163, F-75015 Paris, France Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, F-75015 Paris, France Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaRoadhouse, Chelsea论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLebrun, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Inst Cochin, INSERM U1016, CNRS UMR 8104, F-75014 Paris, France Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaMehaffey, Michele G.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaMartin, Pierre-Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Med Genet, San Francisco, CA USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaApple, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Denver Sch Med, Dept Pediat, Sect Clin Genet & Metab, Aurora, CO 80045 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaMillan, Francisca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaPuk, Oliver论文数: 0 引用数: 0 h-index: 0机构: Praxis Humangenet Tubingen, D-72076 Tubingen, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaHoffer, Mariette J. V.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Clin Genet, Med Ctr, NL-2300 RC Leiden, Netherlands Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaHenderson, Lindsay B.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, West Scotland Reg Genet Serv, Glasgow G51 4TF, Lanark, Scotland Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaWentzensen, Ingrid M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaPei, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaZahir, Farah R.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaYu, Mullin论文数: 0 引用数: 0 h-index: 0机构: Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaGibson, William T.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V6T 1Z4, Canada Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaSeman, Ann论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaSteeves, Marcie论文数: 0 引用数: 0 h-index: 0机构: MassGen Hosp Children, Med Genet, Boston, MA 02114 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaMurrell, Jill R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genom Diagnost, Philadelphia, PA 19104 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaLuettgen, Sabine论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaFrancisco, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: EviCore Healthcare, Bluffton, SC 29910 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaAmlie-Wolf, Louise论文数: 0 引用数: 0 h-index: 0机构: AI duPont Hosp Children Nemours, Div Med Genet, Wilmington, DE 19803 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaKaindl, Angela M.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Neuroanat & Cell Biol, Dept Pediat Neurol, Berlin, Germany Ctr Chronically Sick Children, Berlin, Germany BIH, Berlin, Germany Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaWilson, William G.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia Hlth Syst, Pediat & Med Genet, Charlottesville, VA USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaHalbach, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R ChinaBasel-Salmon, Lina论文数: 0 引用数: 0 h-index: 0机构: Beilinson Med Ctr, Rabin Med Ctr, Raphael Recanati Genet Inst, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Clin, Petah Tiqwa, Israel Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Felsenstein Med Res Ctr, Petah Tiqwa, Israel Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China
- [3] Diagnosis and treatment of MN1 C-terminal truncation syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (11):Yu, Jingjia论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China论文数: 引用数: h-index:机构:Chen, Jialin论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaRan, Qiuchi论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaZhao, Yingya论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaCao, Qingxin论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaChen, Ximeng论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaYu, Linnan论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaLi, Wenyang论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Inst Resp Dis, Hosp 1, Shenyang, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R ChinaZhao, Zhenjin论文数: 0 引用数: 0 h-index: 0机构: China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China China Med Univ, Sch & Hosp Stomatol, Orthodont Dept, Liaoning Prov Key Lab Oral Dis,Clin 1, 117 Nanjing Northern St, Shenyang 110001, Liaoning, Peoples R China
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- [5] Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature reviewINTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2022, 82 (01) : 96 - 103Zhao, Arman论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaShu, Dandan论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Rehabil Med, Childrens Hosp, 92 Zhongnan St,Suzhou Ind Pk, Suzhou 215025, Jiangsu, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaZhang, Daxue论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Rehabil Med, Childrens Hosp, 92 Zhongnan St,Suzhou Ind Pk, Suzhou 215025, Jiangsu, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaYang, Bin论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaHong, Liyi论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaWang, Andi论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaYao, Ruen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Med Genet, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Mol Diagnost Lab, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Med Genet, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Mol Diagnost Lab, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Soochow Univ, Dept Pediat Surg, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaLv, Haitao论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Cardiol, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Med Genet, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Mol Diagnost Lab, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Soochow Univ, Dept Pediat Surg, Childrens Hosp, Suzhou, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Med Genet, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Mol Diagnost Lab, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Dept Genet & Metab, Nanning, Peoples R China Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaWang, Hongying论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China Childrens Hosp Wujiang Dist, Dept Clin Lab, 169 Pk Rd, Suzhou 215234, Jiangsu, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R ChinaGu, Qin论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Dept Rehabil Med, Childrens Hosp, 92 Zhongnan St,Suzhou Ind Pk, Suzhou 215025, Jiangsu, Peoples R China Soochow Univ, Dept Clin Lab, Childrens Hosp, Suzhou, Peoples R China
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- [7] De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersAMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (01) : 213 - 220Dulovic-Mahlow, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyTrinh, Joanne论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKandaswamy, Krishna Kumar论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBraathen, Geir Julius论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany论文数: 引用数: h-index:机构:Rahikkala, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Pediat, Pediat Neurol Pediat Surg Child Psychiat Dermatol, Oys Oulu 90029, Finland Univ Oulu, Med Res Ctr Oulu, Oys Oulu 90029, Finland Oulu Univ Hosp, Oys Oulu 90029, Finland Oulu Univ Hosp, Dept Clin Genet, Oys Oulu 90029, Finland Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBeblo, Skadi论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Univ Hosp, Hosp Children & Adolescents, Dept Women & Child Hlth, Ctr Pediat Res Leipzig, D-04103 Leipzig, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyWerber, Martin论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKrajka, Victor论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBusk, Oyvind L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBaumann, Hauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAl-Sannaa, Nouriya Abbas论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Aramco Hlth Care, Dept Pediat Serv, Dhahran 34465, Saudi Arabia Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyHinrichs, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAffan, Rabea论文数: 0 引用数: 0 h-index: 0机构: Pronto Diagnost, IL-6158002 Tel Aviv, Israel Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyNavot, Nir论文数: 0 引用数: 0 h-index: 0机构: Pronto Diagnost, IL-6158002 Tel Aviv, Israel Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAl Balwi, Mohammed A.论文数: 0 引用数: 0 h-index: 0机构: King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, King Abdulaziz Med City, Dept Pathol & Lab Med,Coll Med, Riyadh 11426, Saudi Arabia Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyOprea, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyHolla, Oystein L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyWeiss, Maximilian E. R.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyJamra, Rami A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKahlert, Anne-Karin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Dresden, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKishore, Shivendra论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyTveten, Kristian论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyVos, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Rostock, D-18147 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany
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- [9] De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (04) : 991 - 999Shashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAPena, Loren D. M.论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKim, Katherine论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Chicago, IL 60611 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USABurton, Barbara论文数: 0 引用数: 0 h-index: 0机构: Ann & Robert H Lurie Childrens Hosp Chicago, Dept Pediat, Chicago, IL 60611 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USASchoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAWalkiewicz, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAMcLaughlin, Heather M.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USACho, Megan论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAStong, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAHickey, Scott E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Mol & Human Genet, Columbus, OH 43082 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAShuss, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Div Mol & Human Genet, Columbus, OH 43082 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAFreemark, Michael S.论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Div Endocrinol & Diabet, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USABellet, Jane S.论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Durham, NC 27710 USA Duke Hlth, Dept Dermatol, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKeels, Martha Ann论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Durham, NC 27710 USA Duke Hlth, Dept Surg, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USABonner, Melanie J.论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Psychiat & Behav Sci, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAEl-Dairi, Maysantoine论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Duke Eye Ctr, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAButler, Megan论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Pediat, Div Gastroenterol Hepatol & Nutr, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKranz, Peter G.论文数: 0 引用数: 0 h-index: 0机构: Duke Hlth, Dept Radiol, Div Neuroradiol, Durham, NC 27710 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAStumpel, Constance T. 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M.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Sch Oncol & Dev Biol, NL-6202 AZ Maastricht, Netherlands Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKlinkenberg, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Neurol, NL-6202 AZ Maastricht, Netherlands Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAOberndorff, Karin论文数: 0 引用数: 0 h-index: 0机构: Zuyderland Med Ctr, Dept Pediat, NL-6162 BG Sittard, Netherlands Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAAlawi, Malik论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Bioinformat Serv Facil, D-20246 Hamburg, Germany Univ Hamburg, Ctr Bioinformat, D-20246 Hamburg, Germany Leibniz Inst Expt Virol, Heinrich Pette Inst, Virus Genom, D-20246 Hamburg, Germany Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USASanter, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Paediat, D-20246 Hamburg, Germany Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAPetrovski, Slave论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Univ Melbourne, Dept Med, Austin Hlth, Melbourne, Vic 3050, Australia Univ Melbourne, Royal Melbourne Hosp, Melbourne, Vic 3050, Australia Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKuismin, Outi论文数: 0 引用数: 0 h-index: 0机构: Oulu Univ Hosp, Med Res Ctr Oulu, PEDEGO Res Unit, Oulu 90014, Finland Univ Oulu, Oulu 90014, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu 90029, Finland Univ Helsinki, Inst Mol Med Finland, FIN-00290 Helsinki, Finland Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKorpi-Heikkila, Satu论文数: 0 引用数: 0 h-index: 0机构: Ctr Intellectual Disabil Care, Northern Ostrobothnia Hosp Dist, Oulu 90220, Finland Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAPietilainen, Olli论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Harvard Univ, Dept Stem Cell & Regenerat Biol, Harvard Stem Cell Inst, Cambridge, MA 02138 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAAarno, Palotie论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Inst Mol Med Finland, FIN-00290 Helsinki, Finland Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKurki, Mitja I.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Psychiat, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Genet Anal Platform, Cambridge, MA 02142 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAHoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USANeed, Anna C.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Med, Div Brain Sci, London W12 0NN, England Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY 10032 USA Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USAKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, D-20246 Hamburg, Germany Duke Hlth, Dept Pediat, Div Med Genet, Durham, NC 27710 USA
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