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- [1] Clinical and molecular characteristics of Korean patients with Kabuki syndromeJOURNAL OF HUMAN GENETICS, 2024, 69 (09) : 417 - 423Yoon, Ji-Hee论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Sungkyunkwan Univ, Kangbuk Samsung Hosp, Sch Med, Dept Pediat, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaHwang, Soojin论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaBae, Hyunwoo论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea论文数: 引用数: h-index:机构:Seo, Go Hun论文数: 0 引用数: 0 h-index: 0机构: 3Billion Inc, Div Med Genet, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaKoh, June-Young论文数: 0 引用数: 0 h-index: 0机构: Inocras Inc, Daejeon, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaJu, Young Seok论文数: 0 引用数: 0 h-index: 0机构: Inocras Inc, Daejeon, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaDo, Hyo-Sang论文数: 0 引用数: 0 h-index: 0机构: Asan Med Ctr, Asan Inst Life Sci, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaKim, Soyoung论文数: 0 引用数: 0 h-index: 0机构: Asan Med Ctr, Asan Inst Life Sci, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaKim, Gu-Hwan论文数: 0 引用数: 0 h-index: 0机构: Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaKim, Ja Hye论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South KoreaChoi, Jin-Ho论文数: 0 引用数: 0 h-index: 0机构: Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea Asan Med Ctr, Med Genet Ctr, Seoul, South Korea Univ Ulsan, Coll Med, Asan Med Ctr, Dept Pediat, Seoul, South Korea论文数: 引用数: h-index:机构:
- [2] Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome PatientsHUMAN MUTATION, 2014, 35 (07) : 841 - 850Micale, 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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, 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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyMaffeo, Claudia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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: AOS Gerardo Monza, Fdn MBBM, Clin Pediat Univ Milano Bicocca, Ambulatorio Genet Clin Pediat, Monza, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyZucchetti, Federica论文数: 0 引用数: 0 h-index: 0机构: AOS Gerardo Monza, Fdn MBBM, Clin Pediat Univ Milano Bicocca, Ambulatorio Genet Clin Pediat, Monza, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, 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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyDe Nittis, Pasquelena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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyPellico, Maria Teresa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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:Fischetto, Rita论文数: 0 引用数: 0 h-index: 0机构: AOU Policlin Consorziale, UO Malattie Metaboliche Genet Med Endocrinol, Bari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyBoccone, Loredana论文数: 0 引用数: 0 h-index: 0机构: UO Genet Clin & Malattie Rare Osped Microcitem Ca, Cagliari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalySilengo, Margherita论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Pediat, I-10126 Turin, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyBiamino, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Pediat, I-10126 Turin, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyPerria, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Expt & Clin Med, Sect Childhood & Adolescence Neuropsychiat, I-07100 Sassari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalySotgiu, Stefano论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Expt & Clin Med, Sect Childhood & Adolescence Neuropsychiat, I-07100 Sassari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalySerra, Gigliola论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Inst Child Neuropsychiat, I-07100 Sassari, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyLapi, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Anna Meyer, Med Genet Unit, Florence, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Cavaliere, Maria Luigia论文数: 0 引用数: 0 h-index: 0机构: UOSC Genet Med, AORNA Cardarelli, Naples, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyChiurazzi, Pietro论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyDella Monica, Matteo论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped RN G Rummo, UOC Genet Med, Benevento, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyScarano, Gioacchino论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped RN G Rummo, UOC Genet Med, Benevento, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyFaravelli, Francesca论文数: 0 引用数: 0 h-index: 0机构: Galliera Hosp, Div Med Genet, Genoa, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyFerrari, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Modena, Dipartimento Materno Infantile, I-41100 Modena, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyMazzanti, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Dept Paediat, Rare Dis Unit, Bologna, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyPilotta, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Dept Pediat, Ctr Auxoendocrinol, Spedali Civili, Brescia, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyPatricelli, Maria Grazia论文数: 0 引用数: 0 h-index: 0机构: Diagnost & Ric San Raffaele, Milan, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyBedeschi, Maria Francesca论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore, Med Genet Unit, Milan, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyBenedicenti, Francesco论文数: 0 引用数: 0 h-index: 0机构: Reg Hosp Bolzano, Genet Counselling Serv, Dept Pediat, Bolzano, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyProntera, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ & Hosp Perugia, Med Genet Unit, Perugia, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyToschi, Benedetta论文数: 0 引用数: 0 h-index: 0机构: AOU Pisana, UO Lab Genet Med, Pisa, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Di Battista, Eliana论文数: 0 引用数: 0 h-index: 0机构: Univ Genoa, IRCCS G Gaslini, Clin Pediat, Genoa, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyVancini, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Maggiore Hosp, Newborn Intens Care Unit, Bologna, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, ItalyGaravelli, Livia论文数: 0 引用数: 0 h-index: 0机构: Santa Maria Nuova Hosp, Clin Genet Unit, Reggio Emilia, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, 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, FG, Italy IRCCS Casa Sollievo Sofferenza, Med Genet Unit, I-71013 San Giovanni Rotondo, FG, Italy论文数: 引用数: h-index:机构:
- [3] 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
- [4] Kabuki Syndrome and Cancer in Two PatientsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (06) : 1536 - 1539Tumino, Manuela论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyLicciardello, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalySorge, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Unit Congenital Metab Dis & Congenital Malformat, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyCutrupi, Maria Concetta论文数: 0 引用数: 0 h-index: 0机构: Univ Messina, Unit Pediat Genet & Immunol, Messina, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyDi Benedetto, Fabrizio论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Liver & Multiorgan Transplant Unit, Modena, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyAmoroso, Loredana论文数: 0 引用数: 0 h-index: 0机构: Gaslini Childrens Hosp, Dept Hematol Oncol, Genoa, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyCatania, Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyPennisi, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Radiol Unit, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, ItalyD'Amico, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, Italy Univ Catania, Dept Pediat, Pediat Hematol Oncol Unit, Catania, Italy论文数: 引用数: h-index:机构:
- [5] Marker chromosome analysis in two patients with Turner syndrome variant resembling Kabuki phenotypeCHROMOSOME RESEARCH, 2015, 23 : S54 - S54Plaiasu, Vasilica论文数: 0 引用数: 0 h-index: 0机构: IOMC Alfred Rusescu, Genet, Bucharest, Romania IOMC Alfred Rusescu, Genet, Bucharest, RomaniaOchiana, Diana Aurelia论文数: 0 引用数: 0 h-index: 0机构: IOMC Alfred Rusescu, Genet, Bucharest, Romania IOMC Alfred Rusescu, Genet, Bucharest, RomaniaMotei, Gabriela论文数: 0 引用数: 0 h-index: 0机构: IOMC Alfred Rusescu, Genet, Bucharest, Romania IOMC Alfred Rusescu, Genet, Bucharest, RomaniaAnca, Ioana Alina论文数: 0 引用数: 0 h-index: 0机构: IOMC Alfred Rusescu, Pediat, Bucharest, Romania IOMC Alfred Rusescu, Genet, Bucharest, Romania
- [6] Clinical and Molecular Characterization of Hyperinsulinism in Kabuki SyndromeJOURNAL OF THE ENDOCRINE SOCIETY, 2024, 8 (07)Rosenfeld, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Hub Clin Collaborat, 3500 Civ Ctr Blvd,Room 7528, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAMitteer, Lauren M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USABoodhansingh, Kara论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USASanders, Victoria R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USAMcknight, Heather论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, 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, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Congenital Hyperinsulinism Ctr, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA
- [7] Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literatureORPHANET JOURNAL OF RARE DISEASES, 2019, 14 (01)Shangguan, Huakun论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaSu, Chang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol Genet & Metab, Natl Ctr Childrens Hlth, Beijing, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaOuyang, Qian论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaCao, Bingyan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol Genet & Metab, Natl Ctr Childrens Hlth, Beijing, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Mol Genet Diagnost, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200127, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaGong, Chunxiu论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Dept Endocrinol Genet & Metab, Natl Ctr Childrens Hlth, Beijing, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R ChinaChen, Ruimin论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R China Fujian Med Univ, Fuzhou Childrens Hosp Fujian, Dept Endocrinol, Teaching Hosp, Fuzhou 350000, Fujian, Peoples R China
- [8] 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
- [9] Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literatureOrphanet Journal of Rare Diseases, 14Huakun Shangguan论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianChang Su论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianQian Ouyang论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianBingyan Cao论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianJian Wang论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianChunxiu Gong论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of FujianRuimin Chen论文数: 0 引用数: 0 h-index: 0机构: Fujian Medical University Teaching Hospital,Department of Endocrinology, Fuzhou Children’s Hospital of Fujian
- [10] Alstrom syndrome: Two clinical cases with two novel pathogenic variantsEUROPEAN JOURNAL OF OPHTHALMOLOGY, 2023, 33 (04) : NP27 - NP31Herranz-Heras, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, SpainBarcelo, Ana论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, SpainQuesada-Espinosa, Juan F.论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Genet Dept, Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, SpainDorado-Lopez-Rosado, Ana M.论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, SpainTejada-Palacios, Pilar论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, SpainMunoz-Gallego, Alicia论文数: 0 引用数: 0 h-index: 0机构: Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain Madrid Univ Hosp 12 Octubre, Ophthalmol Dept, CAA-4A Avda Cordoba S-N, E-28041 Madrid, Spain