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Publications by Takeshi Mizuguchi

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

American Journal of Human Genetics

English

A Novel GFI1B Mutation at the First Zinc Finger Domain Causes Congenital Macrothrombocytopenia

British Journal of Haematology

English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics

English

SOFT Syndrome in a Patient From Chile

American Journal of Medical Genetics, Part A

English

Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation

Congenital Anomalies

Developmental Biology

English

Microarray Comparative Genomic Hybridization Analysis of 59 Patients With Schizophrenia

Journal of Human Genetics

English