Kiyokuni Miura

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

Kenichiro Yamada, Kiyokuni Miura, Kenju Hara et al. · BMC Medical Genetics · 2010 · 114 citations · Full text

Life Sciences, Genetics, Neurology +17

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura et al. · The American Journal of Human Genetics · 2001 · 100 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Establishing <i>SON</i> in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock–Carey syndrome phenotype

Toshiki Takenouchi, Kiyokuni Miura, Tomoko Uehara et al. · American Journal of Medical Genetics Part A · 2016 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

Shino Shimada, Keiko Shimojima, Nobuhiko Okamoto et al. · Brain and Development · 2014 · 65 citations

Life Sciences, Genetics, Molecular Genetics +16

The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada et al. · American Journal of Medical Genetics Part A · 2014 · 45 citations

Life Sciences, Genetics, Molecular Genetics +17