List of works - Satoshi Narumi - Paulina

List of works by Satoshi Narumi

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

scientific article published on 11 January 2018

Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells

scientific article published on 01 February 2020

Evaluating the seasonality of growth in infants using a mobile phone application

scientific article published on 21 October 2020

Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development

scientific article published on 05 January 2021

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

scientific article published in PLoS ONE

Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology

scientific article published on 21 September 2018

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