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Publications by Shelly K. Weiss

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

Seizure : the journal of the British Epilepsy Association

English

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Delineating the GRIN1 Phenotypic Spectrum

English

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

Seizure : the journal of the British Epilepsy Association

English

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

Journal of Medical Genetics

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IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

Respiratory Medicine

English

Delineating the 15q13.3 Microdeletion Phenotype: A Case Series and Comprehensive Review of the Literature

Genetics in Medicine

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Castleman Disease: Delineating the Spectrum

British Journal of Haematology

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

Journal of Medical Genetics

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Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation

Seizure : the journal of the British Epilepsy Association

English