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Publications by A.J. Tobin

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

Neurobiology of Disease

English

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

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

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A Novel KAL1 Mutation Is Associated With Combined Pituitary Hormone Deficiency

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

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

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

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

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

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

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