Concepedia
Statistics
Publications
18
Citations
1K
H-Index
16
Active since
1999
Affiliations
Tokyo Women's Medical University(Current)
Saitama Children's Medical Center
Kanagawa Children's Medical Center
Osaka International Cancer Institute
Aichi Human Service Center
Mari Matsuo is an author at Tokyo Women's Medical University specializing in genetics, human genetics, and life sciences.
Publications per year
1999–2021
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
Ekkehart Lausch, Andreas Janecke, Matthias Bros et al. · Nature Genetics · 2011 · 186 citations
Life Sciences, Genetics, Molecular Genetics +15
<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome
Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 179 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 72 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature
Mari Matsuo, Koji Muroya, Kenjiro Kosaki et al. · American Journal of Medical Genetics · 1999 · 68 citations
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
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