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- [21] Molecular insights into a new syndrome caused by KMT2D missense variants in exon 38 and 39 distinct from classical Kabuki syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1548 - 1548Mischak, Michaela论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, GermanyUfartes, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, GermanyKastens, Gina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Clin Chem, Gottingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, GermanyLenz, Christof论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Dept Clin Chem, Gottingen, Germany Max Planck Inst Multidisciplinary Sci, Bioanalyt Mass Spectrometry Grp, Gottingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, GermanyPauli, Silke论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany
- [22] Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (01) : 119 - 124Lederer, Damien论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumGrisart, Bernard论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumDigilio, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Med Genet, Ist Ricovero & Cura Carattere Sci, I-00165 Rome, Italy Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumBenoit, Valerie论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumCrespin, Marianne论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumGhariani, Sophie Claire论文数: 0 引用数: 0 h-index: 0机构: Ctr Neurol William Lennox, B-1340 Ottignies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumMaystadt, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumDallapiccola, Bruno论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Dept Med Genet, Ist Ricovero & Cura Carattere Sci, I-00165 Rome, Italy Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, BelgiumVerellen-Dumoulin, Christine论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium Catholic Univ Louvain, Unite Genet Med, B-1200 Brussels, Belgium Catholic Univ Louvain, Ctr Genet Humaine, B-1200 Brussels, Belgium Inst Pathol & Genet, Ctr Genet Humaine, B-6041 Gosselies, Belgium
- [23] Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndromeMOLECULAR GENETICS AND METABOLISM, 2012, 107 (03) : 627 - 629Priolo, Manuela论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Bianchi Melacrino Morelli, Unita Operat Genet Med, Reggio Di Calabria, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyMicale, Lucia论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyAugello, Bartolomeo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyFusco, Carmela论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyZucchetti, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Fdn MBBM, AOS Gerardo Monza, Pediat Clin,UOS Genet Clin Pediat, Milan, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy论文数: 引用数: h-index:机构:Paduano, Valeria论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Bianchi Melacrino Morelli, Unita Operat Genet Med, Reggio Di Calabria, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyBiamino, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Pediat, I-10124 Turin, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: Univ Milano Bicocca, Fdn MBBM, AOS Gerardo Monza, Pediat Clin,UOS Genet Clin Pediat, Milan, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyMammi, Corrado论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Bianchi Melacrino Morelli, Unita Operat Genet Med, Reggio Di Calabria, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyLagana, Carmelo论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Bianchi Melacrino Morelli, Unita Operat Genet Med, Reggio Di Calabria, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyZelante, Leopoldo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, ItalyMerla, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, Italy
- [24] The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migrationHUMAN MOLECULAR GENETICS, 2020, 29 (02) : 305 - 319Schwenty-Lara, Janina论文数: 0 引用数: 0 h-index: 0机构: Philipps Univ Marburg, Dept Biol Mol Embryol, D-35043 Marburg, Germany Philipps Univ Marburg, Dept Biol Mol Embryol, D-35043 Marburg, Germany论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [25] Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)CLINICAL GENETICS, 2015, 87 (03) : 252 - 258Banka, S.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Inst Human Dev, Manchester, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandLederer, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandBenoit, V.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandJenkins, E.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandHoward, E.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandBunstone, S.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandKerr, B.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England Univ Manchester, Manchester Ctr Genom Med, Inst Human Dev, Manchester, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandMcKee, S.论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Northern Ireland Reg Genet Serv, Belfast BT9 7AD, Antrim, North Ireland St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandLloyd, I. C.论文数: 0 引用数: 0 h-index: 0机构: Manchester Royal Eye Hosp, MAHSC, Manchester M13 9WH, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandShears, D.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Dept Clin Genet, Churchill Hosp, Oxford, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandStewart, H.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Dept Clin Genet, Churchill Hosp, Oxford, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandWhite, S. M.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandSavarirayan, R.论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandMancini, G. M. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Dept Clin Genet, Med Ctr, Erasmus MC, NL-3000 DR Rotterdam, Netherlands St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandBeysen, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandCohn, R. D.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Hosp Sick Children, Dept Paediat & Mol Genet, Toronto, ON M5G 1X8, Canada St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandGrisart, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandMaystadt, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Pathol & Genet, Ctr Genet Humaine, Charleroi, Belgium St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, EnglandDonnai, D.论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England St Marys Hosp, Manchester Ctr Genom Med, MAHSC, Manchester M13 9WL, Lancs, England
- [26] Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (01):Zheng, Zhoushu论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaDing, Lu论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaWang, Meihong论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaZhang, Yinghui论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaYang, Yihui论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaTang, Ming论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaXu, Jun论文数: 0 引用数: 0 h-index: 0机构: Ningbo Yinzhou 2 Hosp, Dept Otolaryngol, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaWang, Liangjiong论文数: 0 引用数: 0 h-index: 0机构: Ningbo Med Ctr, Lihuili Hosp, Dept Radiol, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaWu, Junhua论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R ChinaLi, Haibo论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, Ningbo Key Lab Prevent & Treatment Embryogen Dis, Ningbo, Peoples R China Ningbo Women & Childrens Hosp, 339 Liuting Rd, Ningbo, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Dept Obstet, Ningbo, Peoples R China
- [27] Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature reviewFRONTIERS IN GENETICS, 2024, 15Boniel, Snir论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Med Univ Warsaw, Ctr Excellence Rare & Undiagnosed Dis, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, Poland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Paluchowska, Monika论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Pediat & Endocrinol, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, Poland论文数: 引用数: h-index:机构:Zarlenga, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Neonatol, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, Poland论文数: 引用数: h-index:机构:Smigiel, Robert论文数: 0 引用数: 0 h-index: 0机构: Med Univ Wroclaw, Dept Family & Pediat Nursing, Wroclaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, PolandJeziorek, Anetta论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Neurodiagnost Unit, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, PolandSzymanska, Krystyna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Pediat Neurol, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, PolandSzczaluba, Krzysztof论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Med Univ Warsaw, Ctr Excellence Rare & Undiagnosed Dis, Warsaw, Poland Med Univ Warsaw, Dept Med Genet, Warsaw, Poland
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