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Publications by G McGillivray

Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics

English

Related publications

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

American Journal of Human Genetics

English

Congenital Long-Qt Syndrome Caused by a Novel Mutation in a Conserved Acidic Domain of the Cardiac Na+ Channel

Cardiovascular Medicine

English

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice

English

Correction To: Adipokines and the Insulin Resistance Syndrome in Familial Partial Lipodystrophy Caused by a Mutation in Lamin a/C

Internal Medicine

English

Familial Chilblain Lupus Caused by an Activating Mutation in STING

Pediatric Rheumatology

English

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

Journal of the American College of Cardiology

Cardiovascular Medicine

English

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

Multidisciplinary

English

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

Journal of Clinical Investigation

English

First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused by a Novel De Novo Mutation (E197X) in UMOD

Journal of Molecular and Genetic Medicine

English