47 results on '"Eid, Ola M."'
Search Results
2. A pilot study on promoter methylation of MTHFR, MALT1 and MAP3K7 genes in pediatric celiac disease
3. MLPA as a genetic assay for the prenatal diagnosis of common aneuploidy: the first Egyptian experience
4. Clinical and molecular cytogenetic description of a female patient with de novo 18q inversion duplication/deletion
5. Evaluation of MLPA as a comprehensive molecular cytogenetic tool to detect cytogenetic markers of chronic lymphocytic leukemia in Egyptian patients
6. IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children
7. Copy number variations of SHANK3 and related sensory profiles in Egyptian children with autism spectrum disorder
8. Detection of low-grade mosaicism and its correlation with hormonal profile, testicular volume, and semen quality in a cohort of Egyptian Klinefelter and Klinefelter-like patients
9. Study of sensory processing deficits in autism spectrum disorder symptom triad: an Egyptian sample
10. Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder
11. Contribution of chromosomal abnormalities at 10q and 22q to autism
12. Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature
13. The implications of genetic factors in autism spectrum disorder and Alzheimer’s disease
14. Hepatitis C virus and schistosomiasis as a causative factor for hTERT amplification in hepatocellular carcinoma
15. Telomerase reverse transcriptase gene amplification in hematological malignancies
16. Dyslexia with and without Irlen syndrome: A study of influence on abilities and brain‐derived neurotrophic factor level
17. Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma
18. Cytogenetics abnormalities in a referred population for chromosomal analysis and the role of fluorescence in-situ hybridization in refining the diagnosis
19. Molecular cytogenetic techniques for identification of copy-number variations
20. Dyslexia with and without Irlen syndrome: A study of influence on abilities and brain-derived neurotrophic factor level.
21. De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features
22. Fetal Brain Disruption Sequence Versus Fetal Brain Arrest: A Distinct Autosomal Recessive Developmental Brain Malformation Phenotype
23. Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
24. Multitarget fluorescence in-situ hybridization assays in detecting abnormal cells in bronchial washing and biopsied lung cancer cells: a pilot study in Egyptian patients
25. Cyclin D1 gene amplification in proliferating haemangioma
26. Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone
27. Clinical and cytogenetic assessment of a cohort of Egyptian patients with Neurofibromatosis 1
28. Phelan-McDermid Syndrome: Expanding the Phenotype.
29. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder
30. Altered Expression of MicroRNAs in the Bone Marrow of Multiple Myeloma Patients and their Relationship to Cytogenetic Aberrations
31. Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
32. Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation
33. Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients
34. Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients
35. Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature.
36. Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features
37. Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients
38. Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt
39. Evaluation of the frequency of sister chromatid exchanges and micronuclei in children with type-1 diabetes mellitus
40. Molecular characterization of patients with clinical suspicion of 22q11.2 deletion syndrome.
41. Epilepsy and autistic manifestations in an Egyptian child with ring 14
42. Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone
43. Cytokinesis-blocked micronucleus assay in a group of Egyptian patients with Fanconi anemia
44. Evaluation of the frequency of sister chromatid exchanges and micronuclei in children with type-1 diabetes mellitus.
45. Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients
46. Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
47. Evaluation of BRCA1 Large Genomic Rearrangements in Group of Egyptian Female Breast Cancer Patients Using MLPA.
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