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Publications by G. K. Thornton

A Novel NGF Mutation Clarifies the Molecular Mechanism and Extends the Phenotypic Spectrum of the HSAN5 Neuropathy

Journal of Medical Genetics

English

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MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review

Seizure : the journal of the British Epilepsy Association

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Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum

Orphanet Journal of Rare Diseases

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A Novel Ca2+-Feedback Mechanism Extends the Operating Range of Mammalian Rods to Brighter Light

Journal of General Physiology

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Novel Variants and Phenotypes Widen the Phenotypic Spectrum of GABRG2-related Disorders

Seizure : the journal of the British Epilepsy Association

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Delineating the GRIN1 Phenotypic Spectrum

English

POMGnT1 Mutation and Phenotypic Spectrum in Muscle-Eye-Brain Disease

Journal of Medical Genetics

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APC Mutation and Phenotypic Spectrum of Singapore Familial Adenomatous Polyposis Patients

European Journal of Human Genetics

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A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.

Acta Biochimica Polonica

Molecular Biology

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The Lys103Asn Mutation of HIV-1 RT: A Novel Mechanism of Drug Resistance

Journal of Molecular Biology

Structural Biology

Molecular Biology

English