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YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| Article types | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts |
| Journal | Formal name：Clinical Genetics Abbreviation：Clin Genet ISSN code：00099163/13990004 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 92(2),pp.180-187 |
| Author and coauthor | Iwama K,Mizuguchi T, Takanashi J, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka Y, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N |
| Publication date | 2017/03/30 |
| DOI | 10.1111/cge.12991 |