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Publications by Magalie Leduc
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Related publications
Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta
Journal of Medical Genetics
Genetics
Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
American Journal of Human Genetics
Genetics
A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA
Circulation Research
Cardiovascular Medicine
Physiology
Cardiology
Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus
Journal of Medical Genetics
Genetics
INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family
Clinical Genetics
Genetics
An Autosomal Recessive Form of Alagille-Like Syndrome That Is Not Linked to JAG1
Genetics in Medicine
Medicine
Genetics
Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation
Genomics
Genetics
A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
Journal of Integrative Cardiology
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss
PLoS ONE
Multidisciplinary
