Concepedia

Satoshi Narumi

SN

67

Publications

2.3K

Citations

27

H-Index

1995

Active since

Affiliations

Keio University(Current)

National Center For Child Health and Development

Kanagawa Children's Medical Center

Tokyo Metropolitan Children's Medical Center

Hamamatsu University School of Medicine

Satoshi Narumi is an author at Keio University specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1995–2024

67

Publications

67

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 · 321 citations

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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

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 · 96 citations · Full text

<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

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 · 76 citations

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