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Publications by Kenjiro Kosaki

Clonal Expansion of Second-Hit Cells With Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

Journal of Investigative Dermatology

Molecular Biology

English

Polymorphisms in the UGT1A1 Gene Predict Adverse Effects of Irinotecan in the Treatment of Gynecologic Cancer in Japanese Patients

Journal of Human Genetics

English

EstablishingSONin 21q22.11 as a Cause a New Syndromic Form of Intellectual Disability: Possible Contribution to Braddock-Carey Syndrome Phenotype

American Journal of Medical Genetics, Part A

English

Schuurs-Hoeijmakers Syndrome in Two Patients From Japan

American Journal of Medical Genetics, Part A

English

SATB2-associated Syndrome in Patients From Japan: Linguistic Profiles

American Journal of Medical Genetics, Part A

English

The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

Genetic Testing and Molecular Biomarkers

English

Systemic and Maxillofacial Characteristics of 11 Japanese Children With Russell-Silver Syndrome

Congenital Anomalies

Developmental Biology

English

Endocrinological Characteristics of 25 Japanese Patients With CHARGE Syndrome

Clinical Pediatric Endocrinology

English

First Cases of MPV17 Related Mitochondrial DNA Depletion Syndrome With Compound Heterozygous Mutations in p.R50Q/p.R50W: A Case Report

Hepatoma Research

English