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Publications by Moshe Frydman
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
PLoS ONE
Multidisciplinary
Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
American Journal of Human Genetics
Genetics
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
American Journal of Human Genetics
Genetics
Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness
Journal of Medical Genetics
Genetics
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia
