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Publications by Lise Bernier

Severe Oily Ichthyosis in Monozygotic Twins Mimicking Chanarin-Dorfman Syndrome but Not Associated With a Mutation of the CGI58 Gene

Archives of Dermatology

English

Related publications

Chanarin-Dorfman Syndrome

Clinical and Experimental Dermatology

English

A New Patient of Chanarin Dorfman Syndrome in Egypt

Archives of Clinical and Medical Case Reports

English

A New Patient of Chanarin Dorfman Syndrome in Egypt

Archives of Clinical and Medical Case Reports

English

Early Onset of Chanarin-Dorfman Syndrome With Severe Liver Involvement in a Patient With a Complex Rearrangement of ABHD5 Promoter

BMC Medical Genetics

English

Turner's Syndrome in Monozygotic Twins.

Journal of Medical Genetics

English

Familial Amyloidotic Polyneuropathy Associated With the Transthyretin CYS 114 Gene in a Russian Pair of Monozygotic Twins.

Orphanet Journal of Rare Diseases

English

Mirror-Image Asymmetry in Monozygotic Twins With Kabuki Syndrome

Molecular Syndromology

English

Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

American Journal of Human Genetics

English

Clinical and Genetic Characterization of a Chanarin Dorfman Syndrome Patient Born to Diseased Parents

BMC Medical Genetics

English