Yasuyuki Fukuhara

Tokyo, Japan

Last Updated: 09/26/2026

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Found 15 publications

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

Journal: Journal of neurochemistry

Published: July 13, 2025

A Novel p63 Sterile Alpha Motif Domain Variation Identified in a Boy With Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

A Novel p63 Sterile Alpha Motif Domain Variation Identified in a Boy With Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome.

Journal: The Journal of dermatology

Published: May 02, 2025

First-in-human clinical study of an embryonic stem cell product for urea cycle disorders.

First-in-human clinical study of an embryonic stem cell product for urea cycle disorders.

Journal: Stem cell research & therapy

Published: August 23, 2024

Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Journal: Journal of clinical immunology

Published: November 03, 2023

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Journal: Journal of clinical immunology

Published: May 21, 2023

KARS-related diseases with macrothrombocytes and pulmonary arterial hypertension.

KARS-related diseases with macrothrombocytes and pulmonary arterial hypertension.

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

Published: September 08, 2022

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.

Journal: Human genome variation

Published: August 02, 2022

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.

Journal: Molecular genetics and metabolism reports

Published: November 27, 2020

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.

Journal: Molecular genetics and metabolism reports

Published: May 01, 2020

Normal early development in siblings with novel compound heterozygous variants in ASPM.

Normal early development in siblings with novel compound heterozygous variants in ASPM.

Journal: Human genome variation

Published: September 19, 2019

Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.

Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.

Journal: Brain & development

Published: November 07, 2018

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Journal: Clinical dysmorphology

Published: August 21, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026