Satoshi Narumi - Concepedia

Author

Satoshi Narumi

Also Known As

Narumi S, Narumi Satoshi, Narumi, Satoshi, Narumi, Shunji, S NARUMI, S Narumi, S. Narumi, S., Narumi, Satoshi Narumi, Satoshi NARUMI

232

Publications

2.8K

Citations

H-Index

Concepts

All Affiliations

Keio University National Center For Child Health and Development Kanagawa Children's Medical Center Tokyo Metropolitan Children's Medical Center Hamamatsu University School of Medicine

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	20	919
2	Health Sciences	3	3	119
3	Public Health	2	2	77
4	Engineering	1	1	24
5	Natural Sciences	1	1	17

Satoshi Narumi

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 Satoshi Narumi, Naoko Amano, Tomohiro Ishii, Nature Genetics Mendelian DisorderGenetic DisorderMirage SyndromeGeneticsSamd9 Mutations	2016	321
Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients Satoshi Narumi, Koji Muroya, Yumi Asakura, The Journal of Clinical Endocrinology & Metabolism	2010	112
Molecular Basis of Thyroid Dyshormonogenesis: Genetic Screening in Population-Based Japanese Patients Satoshi Narumi, Koji Muroya, Yumi Asakura, The Journal of Clinical Endocrinology & Metabolism	2011	96
<i>TSHR</i>Mutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study Satoshi Narumi, Koji Muroya, Yoichiro Abe, The Journal of Clinical Endocrinology & Metabolism	2009	96
Identification and Functional Characterization of Two Novel <i>NPR2</i> Mutations in Japanese Patients With Short Stature Naoko Amano, Tokuo Mukai, Yoshiya Ito, The Journal of Clinical Endocrinology & Metabolism	2014	76
Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells Ryusaku Matsumoto, Hidetaka Suga, Takashi Aoi, Journal of Clinical Investigation Adjacent Ventral HypothalamusPituitary DevelopsEmbryologyPituitary GlandNeuroendocrine Mechanism	2019	65
Analysis of clinical variables of donors and recipients with respect to short-term graft outcome in human liver transplantation Eishi Totsuka, Uu En Fung, Kenichi Hakamada, Transplantation Proceedings Transplant RejectionTransplantationHepatologySolid Organ TransplantationClinical Variables	2004	64
Genetic defects in pediatric-onset adrenal insufficiency in Japan Naoko Amano, Satoshi Narumi, Mie Hayashi, European Journal of Endocrinology	2017	58
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature Atsushi Hattori, Yûkô Fukui, Akie Nakamura, Endocrine Journal SequencingGrowth HormoneMendelian DisorderGenetic DisorderMedicine	2017	57
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations Hirohito Shima, Katrin Koehler, Yumiko Nomura, Journal of Medical Genetics	2017	54

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