Naoki Hamajima - Publications

Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: October 20, 2021

Evaluation of the clinical performance of noninvasive prenatal testing at a Japanese laboratory.

Journal: The journal of obstetrics and gynaecology research

Published: April 13, 2021

A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.

Journal: Brain & development

Published: May 08, 2019

Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.

Journal: Prenatal diagnosis

Published: September 25, 2018

Cornelia de Lange syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: June 05, 2018

Reply to the letter: "A case of Guillain-Barré syndrome with meningeal irritation".

Journal: Brain & development

Published: May 21, 2017

Current status of non-invasive prenatal testing in Japan.

Journal: The journal of obstetrics and gynaecology research

Published: December 26, 2016

A survey on awareness of genetic counseling for non-invasive prenatal testing: the first year experience in Japan.

Journal: Journal of human genetics

Published: November 18, 2015

A case of Guillain-Barré syndrome with meningeal irritation.

Journal: Brain & development

Published: February 04, 2015

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.

Journal: Clinical endocrinology

Published: January 26, 2015

Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome.

Journal: PloS one

Published: May 05, 2013