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ヤマモト トシユキ
YAMAMOTO Toshiyuki
山本 俊至 所属 医学部 医学科（東京女子医科大学病院） 職種 教授 |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. |
| Journal | Formal name：Genetics in Medicine Abbreviation：Genet Med ISSN code：1530-0366 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 22(11),pp.1838-1850 |
| Author and coauthor | Cappuccio C, Sayou C, Tanno PL, Tisserant E, Bruel AL, Kennani SE, Sá J, Low KJ, Dias C, Havlovicová M, Hančárová M, Eichler EE, Devillard F, Moutton S, MD, Van-Gils J, Dubourg C, Odent S, Piton A, Yamamoto T, Okamoto N, Firth H, Metcalfe K, Moh A, Kimberly A. Chapman, Aref-Eshghi E, Kerkhof J, Torella A, Nigro V, Perrin L, Piard J, Le Guyader G, Jouan T, Thauvin-Robinet C, Duffourd Y, George-Abraham JK, Buchanan CA, Williams D, Kini U, Wilson K, Telethon Undiagnosed Diseases Program, The DDD study, Sousa SB, Hennekam RCM, Sadikovic B, Thevenon J, Govin J, Vitobello A, Brunetti-Pierri N |
| Publication date | 2020/11 |
| DOI | doi: 10.1038/s41436-020-0898-y |