Toshiyuki Yamamoto
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
|
Article types | Original article |
Language | English |
Peer review | Peer reviewed |
Title | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. |
Journal | Formal name:American Journal of Medical Genetics. Part A Abbreviation:Am J Med Genet A ISSN code:15524833 |
Domestic / Foregin | Foregin |
Volume, Issue, Page | 173A(5),pp.1264-1269 |
Author and coauthor | Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. |
Authorship | Lead author,Corresponding author |
Publication date | 2017/03 |
DOI | 10.1002/ajmg.a.38168 |