Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Narasaki Osamu

A One-Base Deletion (183delC) and a Missense Mutation (D276H) in the T-Protein Gene From a Japanese Family With Nonketotic Hyperglycinemia

Journal of Human Genetics

English

Related publications

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

English

Nonketotic Hyperglycinemia: Two Patients With Primary Defects of P-Protein and T-Protein, Respectively, in the Glycine Cleavage System

Pediatric Research

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease

Human Genome Variation

Molecular Biology

English

A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant With Nephrogenic Diabetes Insipidus

Clinical Pediatric Endocrinology

English

Deletion Mutation in BSCL2 Gene Underlies Congenital Generalized Lipodystrophy in a Pakistani Family

Diagnostic Pathology

Forensic Medicine

English

A Block in Glycine Cleavage Reaction as a Common Mechanism in Ketotic and Nonketotic Hyperglycinemia

Pediatric Research

English

The N131S Mutation in the Von Hippel-Lindau Gene in a Japanese Family With Pheochromocytoma and Hemangioblastomas

Endocrine Journal

English

A New 2–Base Pair Deletion in the RPGR Gene in a Black Family With X-Linked Retinitis Pigmentosa

Archives of Ophthalmology

English