共 39 条
- [1] Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic AnalysesJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2024,Mannisto, Jonna M. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Eastern Finland, Fac Hlth Sci, Sch Med, Kuopio Pediat Res Unit, Kuopio 70211, Finland Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandHopkins, Jasmin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandHewat, Thomas, I论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandNasser, Fatima论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandBurrage, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandDastamani, Antonia论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Endocrinol Dept, London WC1N 3JH, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandMirante, Alice论文数: 0 引用数: 0 h-index: 0机构: ULS Coimbra, Hosp Pediat Coimbra, Pediat Endocrinol, P-3000602 Coimbra, Portugal Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandMurphy, Nuala论文数: 0 引用数: 0 h-index: 0机构: CHI, Dept Paediat Endocrinol, Temple St, Dublin D01 XD99, Ireland Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandRzasa, Jessica论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON N6C 2R6, Canada Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandKerkhof, Jennifer论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON N6C 2R6, Canada Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandRelator, Raissa论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON N6C 2R6, Canada Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandJohnson, Matthew B.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandLaver, Thomas W.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandWeymouth, Luke论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandHoughton, Jayne A. L.论文数: 0 引用数: 0 h-index: 0机构: Royal Devon Univ Healthcare NHS Fdn Trust, Exeter Genom Lab, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandWakeling, Matthew N.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandSadikovic, Bekim论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON N6C 2R6, Canada Western Univ, Dept Pathol & Lab Med, London, ON N6A 5C1, Canada Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandDempster, Emma L.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, EnglandFlanagan, Sarah E.论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England Univ Exeter, Med Sch, Dept Clin & Biomed Sci, Exeter EX2 5DW, England
- [2] Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A HaploinsufficiencyHORMONE RESEARCH IN PAEDIATRICS, 2018, 89 (06): : 413 - 422Gibson, Christopher E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USABoodhansingh, Kara E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USALi, Changhong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAConlin, Laura论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAChen, Pan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USABecker, Susan A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USABhatti, Tricia论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USABamba, Vaneeta论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAAdzick, N. Scott论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Surg, Childrens Hosp Philadelphia, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USADe Leon, Diva D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAGanguly, Arupa论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAStanley, Charles A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA
- [3] Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome生物组学研究杂志(英文), 2018, 1 (03) : 140 - 146Shi Weihui论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalChen Yiyao论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalChen Songchang论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalLi Shuyuan论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalChang Chunxin论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalZhang Lanlan论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalFei Hongjun论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalHuang Hefeng论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalZhang Junyu论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health HospitalXu Chenming论文数: 0 引用数: 0 h-index: 0机构: International Peace Maternity and Child Health Hospital
- [4] A novel splicing variant of KDM6A in a family with Kabuki Syndrome 2EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1043 - 1043Geckinli, Bilgen Bilge论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, TurkyieErsoy, Aysenur论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, TurkyieHanoglu, Onur论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, TurkyieYuce, Vedat论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, TurkyieSoylemez, Mehmet Ali论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, TurkyieArman, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie
- [5] Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case reportBMC MEDICAL GENETICS, 2018, 19Guo, Zhimei论文数: 0 引用数: 0 h-index: 0机构: Bethune Int Peace Hosp, Neonatol Dept, Shijiazhuang 050082, Hebei, Peoples R China Bethune Int Peace Hosp, Neonatol Dept, Shijiazhuang 050082, Hebei, Peoples R ChinaLiu, Fang论文数: 0 引用数: 0 h-index: 0机构: Bethune Int Peace Hosp, Neonatol Dept, Shijiazhuang 050082, Hebei, Peoples R China Bethune Int Peace Hosp, Neonatol Dept, Shijiazhuang 050082, Hebei, Peoples R ChinaLi, Hai Jun论文数: 0 引用数: 0 h-index: 0机构: Bethune Int Peace Hosp, Liver Dis Diag & Treatment Ctr PLA, Shijiazhuang 050082, Hebei, Peoples R China Bethune Int Peace Hosp, Neonatol Dept, Shijiazhuang 050082, Hebei, Peoples R China
- [6] A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotypeEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 293 - 294Skopkova, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaStanik, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia Comenius Univ, Med Fac, Dept Pediat, Bratislava, Slovakia Children Fac Hosp, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaBrennerova, K.论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Med Fac, Dept Pediat, Bratislava, Slovakia Children Fac Hosp, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaDanis, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaRosolankova, M.论文数: 0 引用数: 0 h-index: 0机构: Children Fac Hosp, Bratislava, Slovakia Comenius Univ, Med Fac, Dept Intens Care Neonatol, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaSalingova, A.论文数: 0 引用数: 0 h-index: 0机构: Children Fac Hosp, Dept Lab Med, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaBzduch, V.论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Med Fac, Dept Pediat, Bratislava, Slovakia Children Fac Hosp, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaKlimes, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, SlovakiaGasperikova, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia Inst Expt Endocrinol BMC SAS, Bratislava, Slovakia
- [7] Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 GeneCANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, 2024, 51 (04) : 585 - 587Bhandari, Vinaya论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaKim, Raymond论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaFaghfoury, Hanna论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Mt Sinai Hosp, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaSilver, Josh论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Univ Hlth Network, Fred A Litwin Family Ctr Genet Med, Toronto, ON, Canada Mt Sinai Hosp, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaChan, Raymond H.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaDing, Qiliang论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ted Rogers Ctr Heart Res, Cardiac Genome Clin, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaSchwartz, Marci L. B.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ted Rogers Ctr Heart Res, Cardiac Genome Clin, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, CanadaBril, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Univ Hlth Network, Toronto Gen Hosp, Ellen & Martin Prosserman Ctr Neuromuscular Dis, Toronto, ON, Canada
- [8] Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant ✩NEUROMUSCULAR DISORDERS, 2023, 33 (07) : 557 - 561Blanco-Arias, Patricia论文数: 0 引用数: 0 h-index: 0机构: Hlth Code, Neurol Area, La Coruna, Spain Hlth Code, Neurol Area, La Coruna, SpainMartinez, Inmaculada Medina论文数: 0 引用数: 0 h-index: 0机构: Virgen de las Nieves Univ Hosp, Neuropediat Dept, Granada, Spain Hlth Code, Neurol Area, La Coruna, SpainFernandez, Luisa Arrabal论文数: 0 引用数: 0 h-index: 0机构: Virgen de las Nieves Univ Hosp, Neuropediat Dept, Granada, Spain Hlth Code, Neurol Area, La Coruna, SpainInfante, Eloy Rivas论文数: 0 引用数: 0 h-index: 0机构: Virgen del Rocio Univ Hosp, Anat Pathol Dept, Seville, Spain Hlth Code, Neurol Area, La Coruna, SpainFernandez, Maria Jose Salmeron论文数: 0 引用数: 0 h-index: 0机构: Virgen de las Nieves Univ Hosp, Pediat Intens Care Unit, Granada, Spain Hlth Code, Neurol Area, La Coruna, SpainHervas, Catalina Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Virgen de las Nieves Univ Hosp, Pediat Intens Care Unit, Granada, Spain Hlth Code, Neurol Area, La Coruna, Spainde Aguilar, Pilar Azcon Gonzalez论文数: 0 引用数: 0 h-index: 0机构: Virgen de las Nieves Univ Hosp, Pediat Intens Care Unit, Granada, Spain Hlth Code, Neurol Area, La Coruna, SpainArmengol, Lluis论文数: 0 引用数: 0 h-index: 0机构: Hlth Code, Neurol Area, La Coruna, SpainPedrinaci, Susana论文数: 0 引用数: 0 h-index: 0机构: Quantitat Genom Med Labs SL, qGenom, Barcelona, Spain Virgen de las Nieves & San Cecilio Univ Hosp, Genet Dept, Granada, Spain Hlth Code, Neurol Area, La Coruna, SpainPerin, Francesca论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves Univ Hosp, Pediat Cardiol Dept, Granada 18014, Spain Hlth Code, Neurol Area, La Coruna, Spain
- [9] Novel pathogenic variant in GATA6 causes neonatal diabetes mellitus due to pancreas malformation and congenital heart diseaseJOURNAL OF PAEDIATRICS AND CHILD HEALTH, 2024, 60 (12) : 874 - 875Tornero-Hernandez, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainCayuela-Hernandez, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainChover-Martinez, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainLeon-Carinena, Sara论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainToledo, Juan Diego论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Hlth Res Inst La Fe, Neonatal Res Unit, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainMartin-Zamora, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, SpainSolaz-Garcia, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Hlth Res Inst La Fe, Neonatal Res Unit, Valencia, Spain Univ & Polytech Hosp La Fe, Div Neonatol, Ave Fernando Abril Martorell 106, Martorell 46026, Valencia, Spain
- [10] Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disordersGENE, 2020, 731Yap, Chui-Sun论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore Hlth Sci Author, Cell Therapy Facil, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeJamuar, Saumya Shekhar论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeLai, Angeline H. M.论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTan, Ee-Shien论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeNg, Ivy论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTing, Teck Wah论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, SingaporeTan, Ene-Choo论文数: 0 引用数: 0 h-index: 0机构: KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore SingHlth Duke NUS Med Sch, Paediat Acad Clin Programme, Singapore, Singapore KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore