14 results on '"Tatour, Yasmin"'
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2. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
3. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
4. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
5. Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex
6. Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
7. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome
8. A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
9. Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects
10. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome.
11. Male sterility and reduced female fertility in SCAPER-deficient mice
12. Mutations inSCAPERcause autosomal recessive retinitis pigmentosa with intellectual disability
13. Mutations in SCAPERcause autosomal recessive retinitis pigmentosa with intellectual disability
14. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
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