321 results on '"Ali, Manir"'
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2. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
3. Effects of Performance Appraisal on Employee Productivity in Federal Ministry of Education Headquarters Abuja Nigeria
4. Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus
5. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
6. PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies
7. DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
8. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
9. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
10. LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss
11. Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
12. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
13. Matrix metalloproteinases in keratoconus – Too much of a good thing?
14. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
15. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
16. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
17. The molecular biology of frutose intolerance
18. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
19. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
20. Haplotyping Using Long-Range PCR and Nanopore Sequencing of Phase Variants; Lessons Learned From the ABCA4 Locus
21. Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
22. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
23. Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
24. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
25. DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM
26. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
27. Reply
28. An X-Ray Scattering Study into the Structural Basis of Corneal Refractive Function in an Avian Model
29. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
30. A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease
31. Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
32. Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa
33. Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea
34. Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged ( rge) phenotype—An X-ray diffraction study
35. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy
36. ENDGAMES
37. Effects of Performance Appraisal on Employee Productivity in Federal Ministry of Education Headquarters Abuja Nigeria
38. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
39. Patterns of inheritance, not always easily visible
40. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data
41. Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
42. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
43. CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration
44. Identification of autosomal recessive disease loci using out-bred nuclear families
45. Reply
46. Changing the status quo bias
47. Reply to Papanikolaou et al
48. A Recessively Inherited Risk Locus on Chromosome 13q22-31 Conferring Susceptibility to Schizophrenia
49. Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5)
50. Differential Display Reverse Transcription-Polymerase Chain Reaction to Identify Novel Biomolecules in Arthritis Research
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