Noriaki Harada
Yokohama, Japan
Last Updated: 09/26/2026
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Found 8 publications
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Journal: Clinical genetics
Published: November 04, 2021
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Journal: Human genome variation
Published: October 24, 2021
A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
Journal: Surgery today
Published: April 30, 2020
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Journal: American journal of medical genetics. Part A
Published: March 26, 2020
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: January 07, 2019
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
Journal: Congenital anomalies
Published: August 23, 2017
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
Journal: Congenital anomalies
Published: August 21, 2017
Clinical Evaluation of the Immunochromatographic System Using Silver Amplification for the Rapid Detection of Mycoplasma pneumoniae.
Journal: Scientific reports
Published: July 18, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026