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Publications by Matthew Wleklinski

An Autosomal Dominant Mutation in Calsequestrin 2 Causes CPVT Without Changing Protein Levels

Biophysical Journal

English

Related publications

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

Cardiovascular Medicine

English

A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

G3: Genes, Genomes, Genetics

Molecular Biology

English

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

Journal of Medical Genetics

English

Autosomal Dominant Amelogenesis Imperfecta Associated withENAMframeshift Mutation p.Asn36Ilefs56

Clinical Genetics

English

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

American Journal of Human Genetics

English

Mutation in the Novel Nuclear-Encoded Mitochondrial Protein CHCHD10 in a Family With Autosomal Dominant Mitochondrial Myopathy

Molecular Neuroscience

English

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Molecular Biology

Cancer Research

English

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Internal Medicine

English