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Publications by Mathilde Stévenard

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

BioMed Research International

Molecular Biology

English

Related publications

Congenital Stationary Night Blindness

English

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

English

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

JAMA Ophthalmology

English

A Novel Heterozygous Mutation in Cardiac Calsequestrin Causes Autosomal Dominant Catecholaminergic Polymorphic Ventricular Tachycardia

Cardiovascular Medicine

English

Cav1.4 IT Mouse as Model for Vision Impairment in Human Congenital Stationary Night Blindness Type 2

English

Novel Heterozygous C243Y A20/Tnfaip3 Gene Mutation Is Responsible for Chronic Inflammation in Autosomal-Dominant Behçet's Disease

English

A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Journal of Medical Genetics

English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Patient With a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English