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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 | Blepharophimosis with Intellectual Disability (BIS) and Helsmoortel-Van Der Aa Syndrome (HVDAS) share episignature and phenotype |
| Journal | Formal name：American Journal of Medical Genetics Part C: Seminars in Medical Genetics Abbreviation：Am J Med Genet C ISSN code：1552-4876 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | pp.in press |
| Author and coauthor | Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, Levy MA, Relator R, Kerkhof J, McConkey H, Tedder ML, Alders M, Henneman P, Hennekam RCM, Ciaccio C, D'Arrigo S, Vitobello A, Perrin L, Bourgois A, Yamamoto T, Metcalfe K, Zollino M, Kini U, Oliveira D, Sousa SB, Williams D, Cappuccio G, Sadikovic B, Brunetti-Pierri N |
| Publication date | 2024/05/15 |
| DOI | 10.1002/ajmg.c.32089 |