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Publications by Eva Horemuzova

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

Nature Medicine

Molecular Biology

English

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

Journal of Experimental Medicine

English

Retraction: A TARBP2 Mutation in Human Cancer Impairs microRNA Processing and DICER1 Function

Nature Genetics

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

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

Journal of Neurophysiology

English

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

Biophysical Journal

English

A Gain-Of-Function Mutation in Nav1.6 in a Case of Trigeminal Neuralgia

Molecular Medicine

Molecular Medicine

Molecular Biology

English

A Gain-Of-Function Mutation in IAA18 Alters Arabidopsis Embryonic Apical Patterning

Development (Cambridge)

Developmental Biology

Molecular Biology

English

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

Seizure : the journal of the British Epilepsy Association

English