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- [1] Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutationsCLINICAL GENETICS, 2016, 89 (01) : 115 - 119Miyake, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanTsurusaki, Y.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanKoshimizu, E.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanOkamoto, N.论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Izumi, Japan Res Inst Maternal & Child Hlth, Izumi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanKosho, T.论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanBrown, N. J.论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Dept Clin Genet, Heidelberg, Vic, Australia Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanTan, T. Y.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Melbourne, Royal Melbourne Hosp, Dept Paediat, Melbourne, Vic 3050, Australia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanYap, P. J. J.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanSuzumura, H.论文数: 0 引用数: 0 h-index: 0机构: Dokkyo Med Univ, Dept Pediat, Shimotsuga, Tochigi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanTanaka, T.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org, Hokkaido Med Ctr, Dept Pediat & Clin Res, Sapporo, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanNagai, T.论文数: 0 引用数: 0 h-index: 0机构: Dokkyo Med Univ, Koshigaya Hosp, Dept Pediat, Saitama, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanNakashima, M.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Niikawa, N.论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ Hokkaido, Sapporo, Hokkaido, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMatsumoto, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan
- [2] Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (03):Niu, Jianing论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R China Jiaxing Univ, Jiaxing Matern & Child Hlth Care Hosp, Coll Med, Dept Obstet & Gynecol, Jiaxing, Peoples R China Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R ChinaTeng, Xiaoming论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R China Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R ChinaZhang, Junyu论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R China Tongji Univ, Shanghai Matern & Infant Hosp 1, Reprod Med Ctr, Sch Med, Shanghai 200092, Peoples R China
- [3] Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (02) : 510 - 514Sun, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaHu, Guorui论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaLiu, Huili论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaZhang, Xia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaHuang, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaYan, Hui论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaWang, Lili论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaFan, Yanjie论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaGu, Xuefan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R ChinaYu, Yongguo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Pediat Res, Dept Pediat Endocrinol Genet,Xinhua Hosp, Shanghai, Peoples R China
- [4] Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from TaiwanCHILDREN-BASEL, 2021, 8 (11):Lee, Chung-Lin论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan Natl Yang Ming Chiao Tung Univ, Inst Clin Med, Taipei 11221, Taiwan MacKay Med Coll, Dept Med, New Taipei 25245, Taiwan MacKay Jr Coll Med Nursing & Management, Taipei 11260, Taiwan MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanChuang, Chih-Kuang论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Med Res, Div Genet & Metab, New Taipei 25160, Taiwan Fu Jen Catholic Univ, Coll Med, Taipei 24205, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanChiu, Huei-Ching论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanTu, Ru-Yi论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Med Res, Div Genet & Metab, New Taipei 25160, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanLo, Yun-Ting论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanChang, Ya-Hui论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanLin, Hsiang-Yu论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan MacKay Med Coll, Dept Med, New Taipei 25245, Taiwan MacKay Jr Coll Med Nursing & Management, Taipei 11260, Taiwan MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Med Res, Div Genet & Metab, New Taipei 25160, Taiwan China Med Univ, China Med Univ Hosp, Dept Med Res, Taichung 40402, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, TaiwanLin, Shuan-Pei论文数: 0 引用数: 0 h-index: 0机构: MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan MacKay Med Coll, Dept Med, New Taipei 25245, Taiwan MacKay Mem Hosp, Dept Rare Dis Ctr, Taipei 10449, Taiwan MacKay Mem Hosp, Dept Med Res, Div Genet & Metab, New Taipei 25160, Taiwan Natl Taipei Univ Nursing & Hlth Sci, Dept Infant & Child Care, Taipei 11219, Taiwan MacKay Mem Hosp, Dept Pediat, Taipei 10449, Taiwan
- [5] The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A geneAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (02) : 300 - 305Feldman, Hailey R.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USADlouhy, Stephen R.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USALah, Melissa D.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USAPayne, Katelyn K.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Neurol, Sect Child Neurol, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USAWeaver, David D.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA
- [6] Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2AAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2821 - 2825论文数: 引用数: h-index:机构:Ohto, Tatsuyuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Dept Child Hlth, Fac Med, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanTanaka, Ryuta论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Dept Child Hlth, Fac Med, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanTanaka, Mai论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan论文数: 引用数: h-index:机构:Sakai, Aiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanImagawa, Kazuo论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan论文数: 引用数: h-index:机构:Iwabuti, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Dept Child Hlth, Fac Med, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanFukushima, Takashi论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Dept Child Hlth, Fac Med, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, JapanSumazaki, Ryo论文数: 0 引用数: 0 h-index: 0机构: Univ Tsukuba, Dept Child Hlth, Fac Med, Ibaraki, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Kosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Ctr Med Genet, Sch Med, Tokyo, Japan Univ Tsukuba Hosp, Dept Pediat, 2-1-1 Amakubo, Tsukuba, Ibaraki 3058576, Japan
- [7] Clinical and genetic findings in 14 patients with Wiedemann Steiner syndrome caused by mutation in the KMT2A geneEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 396 - 396Ormieres, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Univ Paris, INSERM, UMR1163, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceRondeau, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceBarcia, G.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceLyonnet, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Univ Paris, INSERM, UMR1163, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceGuimier, A.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceMichot, C.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceBaujat, G.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceCormier-Daire, V.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Univ Paris, INSERM, UMR1163, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, FranceRio, M.论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Inst Imagine, F-75015 Paris, France Hop Necker Enfants Malad, AP HP, Federat Genet, F-75015 Paris, France
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