Noboru Uchida

Tokyo, Japan

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications

A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.

A Novel In-Frame Deletion of FLNA in X-Linked Cardiac Valvular Dysplasia With Variable Clinical Spectrum.

Journal: Congenital anomalies
Published: October 10, 2025

Phenotypic variation among four members in a family with DAX1 deficiency.

Phenotypic variation among four members in a family with DAX1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 03, 2025

Znrf3 exon 2 deletion mice do not recapitulate congenital adrenal hypoplasia.

Znrf3 exon 2 deletion mice do not recapitulate congenital adrenal hypoplasia.

Journal: Journal of molecular endocrinology
Published: February 20, 2024

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Journal: American journal of medical genetics. Part A
Published: November 15, 2023

Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level.

Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: September 04, 2023

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: August 18, 2022

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.

Journal: Human genome variation
Published: August 28, 2020

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report.

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: February 20, 2020

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.

A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation.

Journal: Human genome variation
Published: September 24, 2019

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.

A Novel Case of Somatic KCNJ5 Mutation in Pediatric-Onset Aldosterone-Producing Adenoma.

Journal: Journal of the Endocrine Society
Published: April 12, 2017
Showing 1-10 of 10

Last Updated: 09/26/2026