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Publications by Gaetan Burgio

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

Journal of Experimental Medicine

English

Unlocking HDR-mediated Nucleotide Editing by Identifying High-Efficiency Target Sites Using Machine Learning

Scientific Reports

Multidisciplinary

English

Related publications

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

Neurology: Genetics

English

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

English

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

English

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

Nature Medicine

Molecular Biology

English

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

Circulation: Cardiovascular Genetics

English

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

Nature Genetics

English

Combined Immune Deficiency in Nager's Syndrome

Pediatric Research

English

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

Mucosal Immunology

English

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

Journal of Neurophysiology

English