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Publications by Elizabeth da Silva

Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency

Journal of Experimental Medicine

English

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A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits

Neurology: Genetics

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Gain-Of-Function Mutation in Gli3 Causes Ventricular Septal Defects

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Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

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Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia

Nature Medicine

Molecular Biology

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Gain-Of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias

Circulation: Cardiovascular Genetics

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A Gain-Of-Function Mutation in the CLCN2 Chloride Channel Gene Causes Primary Aldosteronism

Nature Genetics

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Combined Immune Deficiency in Nager's Syndrome

Pediatric Research

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MMP-19 Deficiency Causes Aggravation of Colitis Due to Defects in Innate Immune Cell Function

Mucosal Immunology

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Comparative Gain-Of-Function Effects of the KCNMA1-N999S Mutation on Human BK Channel Properties

Journal of Neurophysiology

English