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Publications by Elizabeth L. Evans

Haematological Characterisation of Mice With Piezo1 Gain-Of-Function Mutation

Biophysical Journal

English

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

Journal of Experimental Medicine

English

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

Neurology: Genetics

English

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

English

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

Nature Medicine

Molecular Biology

English

Progressive Myoclonus Epilepsy Caused by a Gain-Of-Function KCNA2 Mutation

Seizure : the journal of the British Epilepsy Association

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Pathogenic Mutation of Spastin Has Gain-Of-Function Effects on Microtubule Dynamics

Journal of Neuroscience

English

Gain-Of-Function Mutation in Ryanodine Receptor Type 1 Modulates Murine Thymocyte Calcium Signaling and Autoimmune Response in Mice

Biophysical Journal

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Oesophageal Candidiasis and Squamous Cell Cancer in Patients With Gain-Of-Function STAT1 Gene Mutation

United European Gastroenterology Journal

Gastroenterology

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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain of Function Mutation

Gastroenterology

Gastroenterology

English