13 results on '"Benzina, Zeineb"'
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2. A novel missense mutation in the ESRRB gene causes DFNB35 hearing loss in a Tunisian family
3. A Novel Autosomal Recessive Non-Syndromic Deafness Locus, DFNB66 , Maps to Chromosome 6p21.2-22.3 in a Large Tunisian Consanguineous Family
4. A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1
5. TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families
6. Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene
7. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
8. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
9. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
10. Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059-1066insC mutation of the PRSS56 gene.
11. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
12. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
13. Identification of candidate regions for a novel Usher syndrome type II locus.
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