144 results on '"Romdhane, Lilia"'
Search Results
2. Consanguinité et son impact sur la santé et la dynamique du génome : Un exemple de la Tunisie
3. Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
4. Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
5. A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
6. The Genetic Epidemiology of Orphan Diseases in North Africa
7. A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
8. Specific Aspects of Consanguinity : Some Examples from the Tunisian Population
9. Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
10. Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
11. African Genomic Medicine Portal: A Web Portal for Biomedical Applications
12. Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
13. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia
14. Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
15. Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population
16. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III
17. Consanguinity, endogamy, and genetic disorders in Tunisia
18. Human OMICs and Computational Biology Research in Africa: Current Challenges and Prospects
19. Referee report. For: Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia [version 2; peer review: 1 approved, 3 approved with reservations]
20. Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia
21. The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach
22. . Genetic Disorders in North African Populations
23. Genetic diseases in the Tunisian population
24. Fertilizer effect of composted sewage sludge and cattle manure on Pelargonium growth
25. A review of clinical pharmacogenetics Studies in African populations
26. Genetic diversity and functional effect of common polymorphisms in genes involved in the first heterodimeric complex of the Nucleotide Excision Repair pathway
27. Referee report. For: Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report [version 1; peer review: 2 approved with reservations]
28. Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
29. Additional file 1: of A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
30. Additional file 2: of A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci
31. Consanguinity and Inbreeding in Health and Disease in North African Populations
32. Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
33. A Tunisian family with a novel mutation in the geneCYP 4F22for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in theSLC 26A4gene
34. A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
35. Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations
36. Association of rs9939609 Polymorphism with Metabolic Parameters and FTO Risk Haplotype Among Tunisian Metabolic Syndrome
37. Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
38. Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region
39. Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations
40. Consanguinity and rare disease in North Africa: Current situation and perspectives
41. Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations
42. A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism
43. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia
44. Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
45. Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
46. Study of the T16189C variant and mitochondrial lineages in Tunisian and overall Mediterranean region.
47. Consanguinity, endogamy, and genetic disorders in Tunisia
48. Phylogeny and genetic structure of Tunisians and their position within Mediterranean populations.
49. Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
50. Consanguinty and its impact on health and genome dynamic: An example from Tunisia.
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