Keio University

Koara papers

Narumi, Satoshi

1-9 items (total 9)

Utility of rapid genetic analysis for pediatric endocrine and metabolic diseases with crisis.

Author
Narumi, Satoshi
Publication Title
(Publication Date)2023)

Pathogenesis of adrenal insufficiency in MIRAGE syndrome revealed by genetically modified mouse

Author
Narumi, Satoshi
Publication Title
(Publication Date)2023)

The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing

Author
Narumi, Satoshi
Publication Title
(Publication Date)2020)

Model cell-line and model animals of MIRAGE syndrome

Author
Narumi, Satoshi
Publication Title
(Publication Date)2017)

Functional characterization of a novel TSH receptor mutation (V711fs) with protein instability

Author
Narumi, Satoshi
Publication Title
(Publication Date)2014)

Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality

Author
Narumi, Satoshi
Publication Title
(Publication Date)2013)

Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?

Author
Narumi, Satoshi
Publication Title
(Publication Date)2013)

Copy number variation as a cause of thyroid dysgenesis

Author
Narumi, Satoshi
Publication Title
(Publication Date)2010)

Molecular mechanisms and pathophysiology of congenital hypothyroidism

Author
Narumi, Satoshi
Publication Title
(Publication Date)2010)