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Publications by Anna Vitebsky

Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation

English

Related publications

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

Genome-Wide Analysis Reveals a Novel Autosomal-Recessive Hearing Loss Locus DFNB80 on Chromosome 2p16.1-P21

Journal of Human Genetics

English

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Journal of Integrative Cardiology

English

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Acta Ophthalmologica

English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

English

Genomic Duplication in Dyggve Melchior Clausen Syndrome, a Novel Mutation Mechanism in an Autosomal Recessive Disorder

Journal of Medical Genetics

English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

MPZ Mutation in an Early-Onset Charcot-Marie-Tooth Disease Type 1B Family by Genome-Wide Linkage Analysis

International Journal of Molecular Medicine

English