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Publications by Alexandra Faure
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-Q12 and Evidence for Further Genetic Heterogeneity
American Journal of Human Genetics
Genetics
Related publications
Van Maldergem Syndrome: Further Characterisation and Evidence for Neuronal Migration Abnormalities and Autosomal Recessive Inheritance
European Journal of Human Genetics
Genetics
Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders
Journal of the American Academy of Dermatology
Dermatology
Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Autosomal Recessive Congenital Ichthyosis in Sweden and Estonia: Clinical, Genetic and Ultrastructural Findings in Eighty-Three Patients
Acta Dermato-Venereologica
Dermatology
Medicine
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
American Journal of Human Genetics
Genetics
Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability
PLoS ONE
Multidisciplinary
Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes
European Journal of Human Genetics
Genetics
Popliteal Pterygium Syndrome. Evidence for a Severe Autosomal Recessive Form.
Journal of Medical Genetics
Genetics
