55 results on '"El-Maarri, Osman"'
Search Results
2. In Contrast to Full-Length Factor VIII, the Calnexin (ER Chaperone) and LMAN1 (ERGIC transporter) Knockouts Have Minimal Effect on the Secretion of B-Domain-Deleted Factor VIII: Implication for Gene Therapy
3. Exploring Diverse Coagulation Factor XIII Subunit Expression Datasets: A Bioinformatic Analysis
4. Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD
5. Stratifying Cumulus Cell Samples Based on Molecular Profiling to Help Resolve Biomarker Discrepancies and to Predict Oocyte Developmental Competence
6. DNA Methylation at the 11p15 Locus in 20 Monozygotic Twin Pairs after Severe Feto-Fetal Transfusion Syndrome
7. SIRPH: An HPLC-Based SNuPE for Quantitative Methylation Measurement at Specific CpG Sites
8. Molecular Profiling of Fetal and Adult Liver Sinusoidal Endothelial Cells: A F8 Secreting Cell
9. Molecular Profiling of Liver Sinusoidal Endothelial Cells in Comparison to Hepatocytes: Reflection on Which Cell Type Should Be the Target for Gene Therapy
10. Analyzing intracellular F8 mRNA and Protein of a Methionine Missense Mutation (c.[2T>G];[0]) in a Patient-Specific IPS Cell Model
11. Inversions at Xq28 Causing Hemophilia A Are Associated with Specific
12. Over Expression of Specific Transcription Factors to Boost FVIII Expression
13. Analysis of Single-Cell Expression Data of Liver Sinusoidal Endothelial Cells Reveals Strong Variability of F8 Expression Associated with Specific Expression Profile
14. Molecular Analysis of Fetal and Adult Primary Human Liver Sinusoidal Endothelial Cells: A Comparison to Other Endothelial Cells
15. DNA Methylation and Human Diseases
16. Methods: DNA Methylation
17. Bisulfite-Based Methylation Analysis of Imprinted Genes
18. F8 Inversions at Xq28 Causing Hemophilia A Are Associated With Specific Methylation Changes: Implication for Molecular Epigenetic Diagnosis
19. Detailed methylation map of LINE‐1 5′‐promoter region reveals hypomethylated CpG hotspots associated with tumor tissue specificity
20. Skewed X-chromosome inactivation and XIST locus methylation levels do not contribute to the lower prevalence of Parkinson's disease in females
21. Molecular Characterization of F8 Secreting Cell
22. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies ImplicateZIC3andFOXF1in Human VATER/VACTERL Association
23. DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations
24. NLRP7, Involved in Hydatidiform Molar Pregnancy (HYDM1), Interacts with the Transcriptional Repressor ZBTB16
25. Inter-locus as well as intra-locus heterogeneity in LINE-1 promoter methylation in common human cancers suggests selective demethylation pressure at specific CpGs
26. DNA-Methylation Analysis by the Bisulfite-Assisted Genomic Sequencing Method
27. 11p15 DNA-methylation analysis in monozygotic twins with discordant intrauterine development due to severe twin-to-twin transfusion syndrome
28. DNR METILINIMO POKYČIAI PERIFERINIO KRAUJO LEUKOCITUOSE PACIENTAMS, SERGANTIEMS SKRANDŽIO VĖŽIU
29. Measurements of DNA Methylation at Seven Loci in Various Tissues of CD1 Mice
30. Whole Blood DNA Aberrant Methylation in Pancreatic Adenocarcinoma Shows Association with the Course of the Disease: A Pilot Study
31. Epigenetic alteration of the dopamine transporter gene in alcohol-dependent patients is associated with age
32. Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci
33. Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults
34. Sensitive Determination of BRAF Copy Number in Clinical Samples by Pyrosequencing
35. Methylation at Global LINE-1 Repeats in Human Blood Are Affected by Gender but Not by Age or Natural Hormone Cycles
36. A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation
37. Monitoring the progression of the in vitro selection of nucleic acid aptamers by denaturing high-performance liquid chromatography
38. Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males
39. Optimization of Quantitative MGMT Promoter Methylation Analysis Using Pyrosequencing and Combined Bisulfite Restriction Analysis
40. Investigation of Underlying Reasons of Factor VIII Deficiency in Haemophilia A Patients with Undetectable Mutations in the Factor VIII Gene.
41. Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation
42. New Insight into the Molecular Basis of Hemophilia A
43. Hemophilia A Patients with Undetectable Mutations: Current Knowledge and Future Directions*
44. Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene
45. Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes
46. Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect
47. Epigenetic reprogramming in mouse primordial germ cells
48. DNA Methylation at Promoter Regions Regulates the Timing of Gene Activation in Xenopus laevis Embryos
49. Maternal methylation imprints on human chromosome 15 are established during or after fertilization
50. De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism
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