Satoshi Narumi

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 333 citations

Life Sciences, Genetics, Molecular Genetics +11

Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients

Satoshi Narumi, Koji Muroya, Yumi Asakura et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients

Satoshi Narumi, Koji Muroya, Yumi Asakura et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 99 citations · Full text

Life Sciences, Endocrinology, Genetics +13

<i>TSHR</i>Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study

Satoshi Narumi, Koji Muroya, Yoichiro Abe et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 96 citations

Life Sciences, Endocrinology, Genetics +16

Identification and Functional Characterization of Two Novel <i>NPR2</i> Mutations in Japanese Patients With Short Stature

Naoko Amano, Tokuo Mukai, Yoshiya Ito et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 77 citations

Medicine, Genetics, Molecular Genetics +17