Discover open access scientific publications

Search, annotate, share and cite publications

Publications by W.L. Nyhan

Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

Neurobiology of Disease

English

Related publications

A Case Report: Familial Glucocorticoid Deficiency Associated With Familial Focal Segmental Glomerulosclerosis

BMC Endocrine Disorders

English

Familial Mutation in Caffey Disease With Reduced Penetrance: A Case Report

Turkish Journal of Pediatrics

English

A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency

Human Genome Variation

Molecular Biology

English

Functional Analysis of a Troponin I (R145G) Mutation Associated With Familial Hypertrophic Cardiomyopathy

Journal of Biological Chemistry

Molecular Biology

English

Whole‑exome Sequencing Identifies a Novel Mutation (R367G) in SCN5A to Be Associated With Familial Cardiac Conduction Disease

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

Identification of a Novel 14q13.3 Deletion Involving theSLC25A21Gene Associated With Familial Synpolydactyly

Molecular Syndromology

English

Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency

Molecular Medicine

Molecular Biology

English

UBR5Gene Mutation Is Associated With Familial Adult Myoclonic Epilepsy in a Japanese Family

English

A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I

Circulation: Arrhythmia and Electrophysiology

Cardiovascular Medicine

English