Kumiko Yanagi

Tokyo, Japan

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 89 publications

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Journal: Clinical genetics

Published: June 05, 2026

Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.

Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.

Journal: Congenital anomalies

Published: April 20, 2026

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report.

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report.

Journal: CEN case reports

Published: December 05, 2025

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.

Journal: Brain & development

Published: October 09, 2025

CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.

CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.

Journal: International journal of hematology

Published: August 24, 2025

Fatal group A streptococcal sepsis as initial presentation of acute lymphoblastic leukemia.

Fatal group A streptococcal sepsis as initial presentation of acute lymphoblastic leukemia.

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

Published: August 12, 2025

The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder.

The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder.

Journal: Scientific reports

Published: August 11, 2025

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

Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.

Functional analysis of novel and recurrent RINT1 variants in patients with infantile liver dysfunction.

Journal: Journal of human genetics

Published: July 11, 2025

Mechanism of pathogenesis by a gain-of-function variant of STAT6 causing severe allergic diseases and potential for development of molecularly targeted drugs

Mechanism of pathogenesis by a gain-of-function variant of STAT6 causing severe allergic diseases and potential for development of molecularly targeted drugs

Journal: Nihon yakurigaku zasshi. Folia pharmacologica Japonica

Published: July 02, 2025

Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and GM3 ganglioside in addition to ceramide.

Siblings of hyaline fibromatosis syndrome with accumulation of sulfatide and GM3 ganglioside in addition to ceramide.

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

Published: June 11, 2025

A Clinical Study of Nine Patients With ReNU Syndrome.

A Clinical Study of Nine Patients With ReNU Syndrome.

Journal: American journal of medical genetics. Part A

Published: March 17, 2025

Showing 1-12 of 89

Last Updated: 09/26/2026