281 results on '"Farra, Chantal"'
Search Results
2. A homozygous missense variant in PTPN2 with early-onset Crohn’s disease, growth failure and dysmorphic features in an infant: a case report
3. FISH analyses for 1p and 19q status on gliomas: Reporting an 8 years' experience from a tertiary care center in the Middle East
4. Ovulation Induction for Hypogonadotropic Hypogonadism
5. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
6. Association between CYP2A6 genotypes and smoking behavior in Lebanese smokers
7. The Impact of Partial Weak Staining in Normal Breast Epithelium on the Reliability of Immunohistochemistry Results in HercepTest-positive Breast Cancer
8. Use of Time-Lapse Embryo Imaging in Assisted Reproductive Technology Practice
9. BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping
10. Duplication of 10q24 locus: broadening the clinical and radiological spectrum
11. Molecular profiling of adult acute myeloid and lymphoid leukemia in a major referral center in Lebanon: a 10-year experience report and review of the literature
12. Genetic markers of chronic lymphocytic leukemia: a retrospective study of 312 patients from a reference center in Lebanon
13. Human Chromosome 7: DNA Sequence and Biology
14. Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2
15. BRCA mutation screening and patterns among high-risk Lebanese subjects
16. BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
17. Novel SCN9A variant associated with congenital insensitivity to pain.
18. Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
19. Dietary Zinc Intake and Plasma Zinc Concentrations in Children with Short Stature and Failure to Thrive
20. Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
21. Split daily recombinant human LH dose in hypogonadotrophic hypogonadism: a nonrandomized controlled pilot study
22. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
23. PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy
24. Telomeric Repeat-Containing RNA (TERRA): A Review of the Literature and First Assessment in Cutaneous T-Cell Lymphomas
25. Mutational spectrum of cystic fibrosis in the Lebanese population
26. TNF Polymorphisms in Patients with Behçet Disease: A Meta-analysis
27. Essential thrombocythemia with myelofibrosis transformed into acute myeloid leukemia with der(1;15)(q10;q10): case report and literature review
28. Targeting Epigenetic Modifiers Can Reduce the Clonogenic Capacities of Sézary Cells
29. CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population
30. Exploring hTERT promoter methylation in cutaneous T‐cell lymphomas
31. Pediatric M5 Acute Myeloid Leukemia with MLL-SEPT6 fusion and a favorable outcome
32. Cystic fibrosis: A new mutation in the Lebanese population
33. Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project
34. Alpha Thalassemia Allelic Frequency in Lebanon
35. DNMT3B deficiency presenting as severe combined immune deficiency: A case report
36. Changing frequency of equivocal HER-2/neu scores and factors predictive of negative HER 2/neu fluorescent in situ hybridisation in invasive carcinomas of the breast
37. Novel intronic JAG1variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
38. The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study
39. A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
40. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
41. Exploring hTERT promoter methylation in cutaneous T-cell lymphomas.
42. An investigational ovarian stimulation protocol increased significantly the psychological burden in women with premature ovarian failure
43. Implementation of an intensive risk-stratified treatment protocol for children and adolescents with acute lymphoblastic leukemia in Lebanon
44. Current evidences of BRCA mutations in genitourinary and gynecologic tumors: a scoping review
45. An unusual case of chronic lymphocytic leukemia with trisomy 12 and t(14;18) and a favorable response to ibrutinib
46. Intestinal polypoid arteriovenous malformation: unusual presentation in a child and review of the literature
47. Novel pleiotropic BRCA2 pathogenic variants in Lebanese families
48. Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin–Lowry syndrome in a family with variable features and diabetes 2
49. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum
50. Chloroquine and the potential adverse outcome in undiagnosed G6PD-deficient cases infected with COVID-19
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