共 50 条
- [21] A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant OmodysplasiaMOLECULAR SYNDROMOLOGY, 2017, 8 (06) : 318 - 324Tuerkmen, Seval论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany Lab Berlin Charite Vivantes Berlin, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanySpielmann, Malte论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany Max Planck Inst Mol Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanyGuenes, Nilay论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Sch, Dept Pediat Genet, Istanbul, Turkey Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanyKnaus, Alexej论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany Max Planck Inst Mol Genet, Berlin, Germany Berlin Brandenburg Sch Regenerat Therapies BSRT, Charite Campus, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanyFloettmann, Ricarda论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanyMundlos, Stefan论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany Max Planck Inst Mol Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet, Berlin, GermanyTuysuz, Beyhan论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Cerrahpasa Med Sch, Dept Pediat Genet, Istanbul, Turkey Charite Univ Med Berlin, Inst Med Genet, Berlin, Germany
- [22] A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegenerationMOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (07):论文数: 引用数: h-index:机构:Koenig, Mary论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Child & Adolescent Neurol, McGovern Med Sch, 6410 Fannin St,Suite 732, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Child & Adolescent Neurol, McGovern Med Sch, 6410 Fannin St,Suite 732, Houston, TX 77030 USAFarach, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Med Genet, McGovern Med Sch, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Child & Adolescent Neurol, McGovern Med Sch, 6410 Fannin St,Suite 732, Houston, TX 77030 USAMancias, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Child & Adolescent Neurol, McGovern Med Sch, 6410 Fannin St,Suite 732, Houston, TX 77030 USA Univ Texas Hlth Sci Ctr Houston, Dept Pediat, Div Child & Adolescent Neurol, McGovern Med Sch, 6410 Fannin St,Suite 732, Houston, TX 77030 USA论文数: 引用数: h-index:机构:
- [23] De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and AutismBIOLOGICAL PSYCHIATRY, 2011, 69 (09) : 898 - 901Hamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaDaoud, Hussein论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaPiton, Amelie论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaGauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaDobrzeniecka, Sylvia论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Med, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaKrebs, Marie-Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, St Anne Hosp, INSERM Pathophysiol Psychiat Dis U894, Paris, France CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaJoober, Ridha论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Psychiat, Dept Med, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaLacaille, Jean-Claude论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Grp Rech Syst Nerveux Cent, Dept Physiol, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaNadeau, Amelie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaMilunsky, Jeff M.论文数: 0 引用数: 0 h-index: 0机构: Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaWang, Zhenyuan论文数: 0 引用数: 0 h-index: 0机构: Boston Univ, Sch Med, Ctr Human Genet, Boston, MA 02118 USA CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaCarmant, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaMottron, Laurent论文数: 0 引用数: 0 h-index: 0机构: Hop Riviere des Prairies, Ctr Rech Fernand Seguin, Montreal, PQ, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaBeauchamp, Miriam H.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada Univ Montreal, Dept Psychol, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada McGill Univ, Dept Med, Douglas Mental Hlth Univ Inst, Montreal, PQ H3A 2T5, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal, Ctr Excellence Neur, Montreal, PQ H3C 3J7, Canada CHU St Justine, Res Ctr, Synapse Dis Grp S2D, Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
- [24] De novo substitutions of TRPM3 cause intellectual disability and epilepsyEuropean Journal of Human Genetics, 2019, 27 : 1611 - 1618David A. Dyment论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstitutePaulien A. Terhal论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteCecilie F. Rustad论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteKristian Tveten论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteChristopher Griffith论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteParul Jayakar论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteMarwan Shinawi论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteSara Ellingwood论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteRosemarie Smith论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteKoen van Gassen论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteKirsty McWalter论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteA. Micheil Innes论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research InstituteMatthew A. Lines论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Children’s Hospital of Eastern Ontario Research Institute
- [25] Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disabilityGENETICS AND MOLECULAR BIOLOGY, 2024, 47 (03)Pereira, Samara Socorro Silva论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Univ Fed Goias, Programa Pos Graduacao Genet & Biol Mol, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, BrazilPinto, Irene Plaza论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, BrazilSantos, Victor Cortazio do Prado论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Univ Fed Goias, Programa Pos Graduacao Genet & Biol Mol, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, BrazilSilva, Rafael Carneiro论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, BrazilCosta, Emilia Oliveira Alves论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazilda Cruz, Alex Silva论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazilda Cruz, Aparecido Divino论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Ctr Estadual Reabilitacao & Readaptacao Dr Henr Sa, Secretaria Estadual Saude Goias, Goiania, GO, Brazil Univ Fed Goias, Programa Pos Graduacao Genet & Biol Mol, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazilda Silva, Claudio Carlos论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Ctr Estadual Reabilitacao & Readaptacao Dr Henr Sa, Secretaria Estadual Saude Goias, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, BrazilMinasi, Lysa Bernardes论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil Pontificia Univ Catol Goias, Escola Ciencias Med & Vida, Programa Pos Graduacao Genet, Nucleo Pesquisa Replicon, Goiania, GO, Brazil
- [26] De novo mutations of MYT1L in individuals with intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 350 - 350Cremer, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyWindheuser, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyBecker, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyWieland, T.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyZink, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyHelp, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyDegenhardt, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyMangold, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyStrom, T.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyWieczorek, D.论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ Dusseldorf, Univ Klinikum Dusseldorf, Inst Humangenet, Dusseldorf, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Bonn, Inst Human Genet, Bonn, GermanyEngels, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Human Genet, Bonn, Germany
- [27] De novo substitutions of TRPM3 cause intellectual disability and epilepsyEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (10) : 1611 - 1618Dyment, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaTerhal, Paulien A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaRustad, Cecilie F.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaTveten, Kristian论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaGriffith, Christopher论文数: 0 引用数: 0 h-index: 0机构: Univ S Florida, Tampa, FL USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaJayakar, Parul论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Miami, FL USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaShinawi, Marwan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaEllingwood, Sara论文数: 0 引用数: 0 h-index: 0机构: Maine Med Ctr, Div Genet, Dept Pediat, Portland, ME 04102 USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaSmith, Rosemarie论文数: 0 引用数: 0 h-index: 0机构: Maine Med Ctr, Div Genet, Dept Pediat, Portland, ME 04102 USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canadavan Gassen, Koen论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Cumming Sch Med, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Cumming Sch Med, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, CanadaLines, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canada Univ Ottawa, Dept Pediat, Ottawa, ON, Canada Univ Ottawa, Eastern Ontario Res Inst, Childrens Hosp, Ottawa, ON, Canada
- [28] Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in VietnamPERSONALIZED MEDICINE, 2023, 20 (05) : 425 - 433Nguyen, Nhi Yen论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamLu, Y-Thanh论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Duy-Anh论文数: 0 引用数: 0 h-index: 0机构: Hanoi Obstet & Gynecol Hosp, Hanoi 10000, Vietnam Hanoi Med Univ, Hanoi 10000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Canh-Chuong论文数: 0 引用数: 0 h-index: 0机构: Hanoi Obstet & Gynecol Hosp, Hanoi 10000, Vietnam Hanoi Med Univ, Hanoi 10000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamDinh, Linh Thuy论文数: 0 引用数: 0 h-index: 0机构: Hanoi Obstet & Gynecol Hosp, Hanoi 10000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Minh-Thu Thi论文数: 0 引用数: 0 h-index: 0机构: Hanoi Obstet & Gynecol Hosp, Hanoi 10000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Danh-Cuong论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Obstet & Gynecol, Hanoi 10000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamLuong, Lan-Anh Thi论文数: 0 引用数: 0 h-index: 0机构: Hanoi Med Univ Hosp, Hanoi, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamDoan, Kim-Phuong论文数: 0 引用数: 0 h-index: 0机构: Hanoi Med Univ Hosp, Hanoi, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamHuy Nguyen, Vu Quoc论文数: 0 引用数: 0 h-index: 0机构: Hue Univ, Hue Univ Med & Pharm, Hue City 49100, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamThi Ha, Thi Minh论文数: 0 引用数: 0 h-index: 0机构: Hue Univ, Hue Univ Med & Pharm, Hue City 49100, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTruong, Linh-Giang Thi论文数: 0 引用数: 0 h-index: 0机构: Hue Univ, Hue Univ Med & Pharm, Hue City 49100, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Nhat-Thang论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm HCMC, Ho Chi Minh City 70000, Vietnam Univ Med Ctr, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamCao, Phuong Thi-Mai论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm HCMC, Ho Chi Minh City 70000, Vietnam Univ Med Ctr, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Vy Thi-Nhat论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNhut Trinh, Thu Huong论文数: 0 引用数: 0 h-index: 0机构: Tu Du Hosp, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamLe, Quang Thanh论文数: 0 引用数: 0 h-index: 0机构: Tu Du Hosp, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Van Thong论文数: 0 引用数: 0 h-index: 0机构: Hung Vuong Hosp, Ho Chi Minh City, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamHoang, Diem-Tuyet Thi论文数: 0 引用数: 0 h-index: 0机构: Hung Vuong Hosp, Ho Chi Minh City, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamVo, Son Ta论文数: 0 引用数: 0 h-index: 0机构: Vinmec Hlth Care Syst, Hanoi, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, My-Nhi Ba论文数: 0 引用数: 0 h-index: 0机构: Tam Anh Gen Hosp, Ho Chi Minh City, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamBui, Chi-Thuong论文数: 0 引用数: 0 h-index: 0机构: Gia Dinh Peoples Hosp, Ho Chi Minh City, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Son-Tra Thi论文数: 0 引用数: 0 h-index: 0机构: Vietnam Cuba Friendship Dong Hoi Hosp, Dong Hoi 47100, Quang Binh, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamLam, Duc-Tam论文数: 0 引用数: 0 h-index: 0机构: Can Tho Univ Med & Pharm, Can Tho 94000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamLe, Hong-Thinh论文数: 0 引用数: 0 h-index: 0机构: Can Tho Cent Gen Hosp, Can Tho City 94000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, My-Ngoc Ba论文数: 0 引用数: 0 h-index: 0机构: Tu Du Hosp, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamHo, Viet-Thang论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm HCMC, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Minh-Trung论文数: 0 引用数: 0 h-index: 0机构: Hanh Phuc An Giang Ob Gyn Hosp, Long Xuyen 90100, An Giang Provin, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamDoan, Phuoc-Loc论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Kim-Van Thi论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Huyen-Trang Thi论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTran, Uyen Vu论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamDinh, An My论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Thanh-Thanh Thi论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamDo, Thanh-Thuy Thi论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTruong, Dinh-Kiet论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamPhan, Minh-Duy论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamNguyen, Hoai-Nghia论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamTang, Hung-Sang论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, VietnamGiang, Hoa论文数: 0 引用数: 0 h-index: 0机构: Med Genet Inst, Ho Chi Minh City 70000, Vietnam Gene Solut, Ho Chi Minh City 70000, Vietnam Med Genet Inst, Ho Chi Minh City 70000, Vietnam
- [29] A de novo case of autosomal dominant mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S119 - S120Mowrey, Kate论文数: 0 引用数: 0 h-index: 0机构: UTHlth Sci Ctr Houston, Houston, TX USA UTHlth Sci Ctr Houston, Houston, TX USAFraser, Stuart论文数: 0 引用数: 0 h-index: 0机构: UTHlth Sci Ctr Houston, Houston, TX USA UTHlth Sci Ctr Houston, Houston, TX USAKoenig, Mary Kay论文数: 0 引用数: 0 h-index: 0机构: UTHlth Sci Ctr Houston, Houston, TX USA UTHlth Sci Ctr Houston, Houston, TX USAMancias, Pedro论文数: 0 引用数: 0 h-index: 0机构: UTHlth Sci Ctr Houston, Houston, TX USA UTHlth Sci Ctr Houston, Houston, TX USAFarach, Laura论文数: 0 引用数: 0 h-index: 0机构: UTHlth Sci Ctr Houston, Houston, TX USA UTHlth Sci Ctr Houston, Houston, TX USA
- [30] De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesHuman Genetics, 2018, 137 : 401 - 411Daniel Fritzen论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsAlma Kuechler论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMona Grimmel论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsJessica Becker论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsSophia Peters论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMarc Sturm论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsHela Hundertmark论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsAxel Schmidt论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsMartina Kreiß论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsTim M. Strom论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsDagmar Wieczorek论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsTobias B. Haack论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsStefanie Beck-Wödl论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsKirsten Cremer论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human GeneticsHartmut Engels论文数: 0 引用数: 0 h-index: 0机构: University of Bonn,Institute of Human Genetics