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Publications by Hirofumi Okada

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-Truncating Variant in the PCSK9 Gene

Internal Medicine

Internal Medicine

English

Purification and Characterization of Exo-Β-D-Glucosaminidase From a Cellulolytic Fungus,Trichoderma Reesei PC-3-7

Applied and Environmental Microbiology

Applied Microbiology

English

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Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

Multidisciplinary

English

A Heterozygous Duplication Variant of the HOXD13 Gene Caused Synpolydactyly Type 1 With Variable Expressivity in a Chinese Family

BMC Medical Genetics

English

Familial Isolated Hypoparathyroidism Caused by a Mutation in the Gene for the Transcription Factor GCMB

Journal of Clinical Investigation

English

Molecular Pathology of Familial Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Myosin Binding Protein C Gene.

Journal of Medical Genetics

English

A Transthyretin Variant (Alanine 71) Associated With Familial Amyloidotic Polyneuropathy in a French Family.

Journal of Medical Genetics

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A Transthyretin Variant (Alanine 49) Associated With Familial Amyloidotic Polyneuropathy in a French Family.

Journal of Medical Genetics

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Hereditary Variant of Diabetes Mellitus Caused by a Defect of the NEUROD1 Gene (MODY6): The First Description in Russia

Problemy Endokrinologii

English

Canine Chondrodysplasia Caused by a Truncating Mutation in Collagen-Binding Integrin Alpha Subunit 10

Multidisciplinary

English

Lipoprotein Metabolism in an apoB-80 Familial Hypobetalipoproteinemia Heterozygote

Clinical Biochemistry

Clinical Biochemistry

English