170 results on '"O'Rielly, Darren"'
Search Results
2. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
3. Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
4. A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
5. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
6. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
7. Genetic Epidemiology of Complex Phenotypes
8. The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate
9. Rho-GTPase pathways may differentiate treatment response to TNF-alpha and IL-17A inhibitors in psoriatic arthritis
10. Update on the Genetics of Psoriatic Arthritis
11. Quantifying Differences in Heritability among Psoriatic Arthritis (PsA), Cutaneous Psoriasis (PsC) and Psoriasis vulgaris (PsV)
12. Complexities in Genetics of Psoriatic Arthritis
13. Genetics of psoriatic arthritis
14. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
15. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect
16. Expression and Metabolomic Profiling in Axial Spondyloarthritis
17. Highly variable hearing loss due to POU4F3(c.37del) is revealed by longitudinal, frequency specific analyses
18. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer
19. Mutational Landscape of Autism Spectrum Disorder Brain Tissue
20. A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene
21. Clinical Genetic Research 2: Genetic Epidemiology of Complex Phenotypes
22. Clinical and molecular significance of genetic loci associated with psoriatic arthritis
23. Advances in the Genetics of Spondyloarthritis and Clinical Implications
24. Autosomal Dominant Non-Syndromic Hearing Loss Maps to DFNA33 (13q34) and Co-Segregates with Splice Site Variants in ATP11A, A Phospholipid Flippase Gene
25. Where Do We Stand With the Genetics of Psoriatic Arthritis?
26. An Exploration of Physical and Phenotypic Characteristics of Bangladeshi Children with Autism Spectrum Disorder
27. A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect
28. Practice guidelines for BRCA1/2tumour testing in ovarian cancer
29. The Genetics of Psoriasis and Psoriatic Arthritis
30. A review of ixekizumab in the treatment of psoriatic arthritis
31. Real-world Experience of Using HLA-B*27 Tag-single-nucleotide Polymorphism Assay to Screen for Axial Spondyloarthritis
32. Ustekinumab in psoriatic arthritis and related phenotypes
33. A review of ustekinumab in the treatment of psoriatic arthritis
34. Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
35. High Accuracy and Significant Savings Using Tag-SNP Genotyping to DetermineHLA-B*27Status
36. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect
37. The Genetics of Psoriasis and Psoriatic Arthritis.
38. Ankylosing spondylitis: beyond genome-wide association studies
39. Pharmacogenetics and pharmacogenomics in psoriasis treatment: current challenges and future prospects
40. Genetic, Epigenetic and Pharmacogenetic Aspects of Psoriasis and Psoriatic Arthritis
41. Integrated Genomics Identifies Convergence of Ankylosing Spondylitis with Global Immune Mediated Disease Pathways
42. Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis
43. Genetics of psoriatic arthritis
44. Update on the Genetics of Psoriatic Arthritis.
45. Powered for Success: Considerations for Using the Candidate Gene Approach in Rheumatic Diseases in the Post-genomics Era
46. Clinical Genetic Research 2: Genetic Epidemiology of Complex Phenotypes.
47. UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family
48. Ankylosing spondylitis: beyond genome-wide association studies.
49. Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.
50. Genome-Wide Signatures of ‘Rearrangement Hotspots’ within Segmental Duplications in Humans
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