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Publications by T. Ben-Yosef

Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

Journal of Medical Genetics

English

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Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Molecular genetics & genomic medicine

Molecular Biology

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

Molecular Biology

English

Comprehensive Analysis of Deafness Genes in Families With Autosomal Recessive Nonsyndromic Hearing Loss

Multidisciplinary

English

Congenital Non-Syndromal Autosomal Recessive Deafness in Bengkala, an Isolated Balinese Village.

Journal of Medical Genetics

English

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

American Journal of Human Genetics

English

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Journal of Medical Genetics

English

Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-P11.31

American Journal of Medical Genetics, Part A

English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

English