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Your search keyword '"Nourhene Fendri-Kriaa"' showing total 17 results

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17 results on '"Nourhene Fendri-Kriaa"'

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1. A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients

2. Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

4. Novel double deletions in the MECP2 gene in Tunisian Rett patient

5. An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population

6. Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients

7. A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene

8. New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures

9. Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

10. Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

11. A Novel MECP2 Gene Mutation in a Tunisian Patient with Rett Syndrome

12. DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction

13. A novel m.3395AG missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316AG mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss

14. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies

15. The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+)

16. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect

17. Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

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