Yukiko Kuroda

Yokohama, Japan

Last Updated: 09/26/2026

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Found 84 publications

Bipixel rotation method: An algorithm for chirality analysis of biological mesh network.

Bipixel rotation method: An algorithm for chirality analysis of biological mesh network.

Journal: Journal of structural biology: X

Published: May 11, 2026

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Multifocal Neuroblastoma in Rubinstein-Taybi Syndrome Harboring a Novel CREBBP Variant Identified by Paired Whole Genome Sequencing.

Journal: Congenital anomalies

Published: April 13, 2026

A GABRA4 Variant of the GABA(A) Receptor Located in the Extracellular Domain Potentially Contributes to Developmental Delay and Epilepsy.

A GABRA4 Variant of the GABA(A) Receptor Located in the Extracellular Domain Potentially Contributes to Developmental Delay and Epilepsy.

Journal: American journal of medical genetics. Part A

Published: March 28, 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening.

Journal: iScience

Published: March 02, 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

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

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Journal: Clinical dysmorphology

Published: December 15, 2025

Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report.

Coenzyme Q10 Supplementation in a Child with Biallelic COQ8A Variants: A Case Report.

Journal: Case reports in neurology

Published: November 11, 2025

Coats-like exudative vasculopathy in a patient with Bardet-Biedl syndrome.

Coats-like exudative vasculopathy in a patient with Bardet-Biedl syndrome.

Journal: American journal of ophthalmology case reports

Published: October 28, 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 Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.

A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A

Published: July 09, 2025

Showing 1-12 of 84

Last Updated: 09/26/2026