Yu Yamaguchi

Japan

Last Updated: 09/26/2026

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Found 11 publications

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.

Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome.

Journal: Congenital anomalies

Published: August 02, 2024

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.

Journal: Genetics in medicine open

Published: July 18, 2023

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations.

Journal: The Journal of pediatrics

Published: June 29, 2021

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability.

Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability.

Journal: Congenital anomalies

Published: August 10, 2020

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia.

Case Report: Prenatal Genetic Counseling to Parents of Fetuses Suspected of Having Ambiguous Genitalia.

Journal: Frontiers in pediatrics

Published: June 04, 2020

Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2.

Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2.

Journal: Journal of pediatric hematology/oncology

Published: June 04, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

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

IGF2 Mutations.

IGF2 Mutations.

Journal: The Journal of clinical endocrinology and metabolism

Published: April 10, 2019

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome.

Journal: American journal of medical genetics. Part A

Published: September 12, 2018

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.

Journal: American journal of medical genetics. Part A

Published: August 18, 2017

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Journal: The Journal of pediatrics

Published: March 09, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026