Kenji Kurosawa

Yokohama, Japan

Last Updated: 09/26/2026

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Found 197 publications

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.

Journal: JAMA network open

Published: May 04, 2026

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

Journal: Congenital anomalies

Published: February 20, 2026

Repeated and Severe Salt-Wasting Crisis in a Case of Type 1 Pseudohypoaldosteronism.

Repeated and Severe Salt-Wasting Crisis in a Case of Type 1 Pseudohypoaldosteronism.

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

Published: February 10, 2026

A Case Report of Arrhythmia in ZFHX3-Related Neurodevelopmental Disorder.

A Case Report of Arrhythmia in ZFHX3-Related Neurodevelopmental Disorder.

Journal: Congenital anomalies

Published: February 09, 2026

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

Journal: American journal of medical genetics. Part A

Published: January 06, 2026

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Journal: Endocrine journal

Published: November 05, 2025

EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.

EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion.

Journal: Neurogenetics

Published: October 12, 2025

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Journal: Clinical genetics

Published: August 12, 2025

A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.

A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.

Journal: Endocrine journal

Published: July 24, 2025

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.

Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome.

Journal: Journal of human genetics

Published: June 08, 2025

A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele.

A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele.

Journal: Clinical dysmorphology

Published: January 14, 2025

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.

Journal: Journal of medical genetics

Published: December 27, 2024

Showing 1-12 of 197

Last Updated: 09/26/2026