48 results on '"Farra, Chantal"'
Search Results
2. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
3. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
4. Genetic markers of chronic lymphocytic leukemia: a retrospective study of 312 patients from a reference center in Lebanon
5. Human Chromosome 7: DNA Sequence and Biology
6. BRCA mutation screening and patterns among high-risk Lebanese subjects
7. BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
8. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
9. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
10. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy
11. Telomeric Repeat-Containing RNA (TERRA): A Review of the Literature and First Assessment in Cutaneous T-Cell Lymphomas
12. Mutational spectrum of cystic fibrosis in the Lebanese population
13. Targeting Epigenetic Modifiers Can Reduce the Clonogenic Capacities of Sézary Cells
14. CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
15. Exploring hTERT promoter methylation in cutaneous T‐cell lymphomas
16. Pediatric M5 Acute Myeloid Leukemia with MLL-SEPT6 fusion and a favorable outcome
17. Cystic fibrosis: A new mutation in the Lebanese population
18. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project
19. A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
20. Exploring hTERT promoter methylation in cutaneous T-cell lymphomas.
21. Implementation of an intensive risk-stratified treatment protocol for children and adolescents with acute lymphoblastic leukemia in Lebanon
22. An unusual case of chronic lymphocytic leukemia with trisomy 12 and t(14;18) and a favorable response to ibrutinib
23. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum
24. Chloroquine and the potential adverse outcome in undiagnosed G6PD-deficient cases infected with COVID-19
25. CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
26. A rare case of acute myeloid leukemia with t(12;19)(q13;q13)
27. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
28. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum
29. A synonymous variant in MYO15Aenriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
30. Is the introduction of medical genetics course using Team-Based Learning session more effective in the first year or second year of medical school?
31. Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families
32. A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
33. Dubowitz syndrome: common findings and peculiar urine odor
34. Abdominal Wall Desmoid during Pregnancy: Diagnostic Challenges
35. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder
36. Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening ofCFTR
37. De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature
38. Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study
39. Dubowitz syndrome: common findings and peculiar urine odor
40. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder
41. Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
42. Implementation of An Aggressive Risk Stratified Treatment Protocol for Children and Adolescents with Acute Lymphoblastic Leukemia in a Developing Country
43. Vascular at-risk genotypes and disease severity in Lebanese sickle cell disease patients
44. Dubowitz syndrome: common findings and peculiar urine odor.
45. Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.
46. Chloroquine and the potential adverse outcome in undiagnosed G6PD-deficient cases infected with COVID-19.
47. Targeting Epigenetic Modifiers Can Reduce the Clonogenic Capacities of Sézary Cells.
48. Novel human pathological mutations. Gene symbol: CFTR. Disease: cystic fibrosis.
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