Hironao Numabe

Kitamura, 1140033, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 23 publications

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Journal: Genomics

Published: March 17, 2024

De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.

De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.

Journal: Human molecular genetics

Published: April 24, 2022

Development of individuals with thanatophoric dysplasia surviving beyond infancy.

Development of individuals with thanatophoric dysplasia surviving beyond infancy.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: December 16, 2020

Prevalence of Hallermann-Streiff syndrome in a Japanese pediatric population.

Prevalence of Hallermann-Streiff syndrome in a Japanese pediatric population.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: November 25, 2019

A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter.

A familial case of overgrowth syndrome caused by a 9q22.3 microdeletion in a mother and daughter.

Journal: European journal of medical genetics

Published: April 25, 2019

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 23, 2018

58th Annual Meeting of the Japanese Teratology Society: Congenital anomalies as variants.

58th Annual Meeting of the Japanese Teratology Society: Congenital anomalies as variants.

Journal: Congenital anomalies

Published: September 21, 2018

Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.

Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.

Journal: Journal of pediatric hematology/oncology

Published: August 22, 2018

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.

A family case of X-linked Alport syndrome patients with a novel variant in COL4A5.

Journal: CEN case reports

Published: July 31, 2018

Self-perceptions from people with Down syndrome in Japan.

Self-perceptions from people with Down syndrome in Japan.

Journal: Journal of human genetics

Published: October 16, 2017

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

Journal: Journal of human genetics

Published: October 16, 2017

Psychological distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan.

Psychological distress in post-partum women after non-invasive prenatal testing (NIPT) in Japan.

Journal: The journal of obstetrics and gynaecology research

Published: February 21, 2017

Showing 1-12 of 23

Last Updated: 09/26/2026