Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Geneviève Bernard

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

American Journal of Human Genetics

English

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy P415

American Journal of Human Genetics

English

A Clinical Approach to the Diagnosis of Patients With Leukodystrophies and Genetic Leukoencephelopathies

Molecular Genetics and Metabolism

Molecular Biology

English

4H Leukodystrophy

Neurology: Genetics

English

Patient-Derived Stem Cells, Another in Vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

Frontiers in Pediatrics

English

HSD10 Mitochondrial Disease: p.Leu122Val Variant, Mild Clinical Phenotype, and Founder Effect in French’Canadian Patients From Quebec

Molecular genetics & genomic medicine

Molecular Biology

English