Tadashi Kaname
Tokyo, Japan
Last Updated: 09/26/2026
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Found 147 publications
Clinical and Genetic Findings in Two Japanese Individuals With SET-Related Neurodevelopmental Disorder.
Journal: Congenital anomalies
Published: April 20, 2026
Hearing loss associated with CDC42 in mice and humans (Takenouchi-Kosaki syndrome): CDC42 and RHOQ synergistically function in cochlear hair cells.
Journal: The Journal of biological chemistry
Published: April 03, 2026
An Autopsy Case of Beare-Stevenson Cutis Gyrata Syndrome Presenting with an Extremely Short Small Intestine.
Journal: Internal medicine (Tokyo, Japan)
Published: March 26, 2026
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.
Journal: Brain & development
Published: October 09, 2025
CYCS-related thrombocytopenia in three Japanese families with a novel variant in one family.
Journal: International journal of hematology
Published: August 24, 2025
DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.
Journal: Human genome variation
Published: August 14, 2025
The p.L218P variant in WDR83 disrupts neuronal development, leading to neurodevelopmental disorder.
Journal: Scientific reports
Published: August 11, 2025
Coexisting genetic abnormalities and thrombocytopenia.
Journal: The Lancet. Haematology
Published: August 07, 2025
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 15, 2025
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
Last Updated: 09/26/2026