179 results on '"DeLuca, Adam P."'
Search Results
2. Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomography
3. Using Goldmann Visual Field Volume to Track Disease Progression in Choroideremia
4. Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
5. Exome-based investigation of the genetic basis of human pigmentary glaucoma
6. Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis
7. Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease
8. AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY
9. Propensity of Patient-Derived iPSCs for Retinal Differentiation: Implications for Autologous Cell Replacement
10. Modeling rod and cone photoreceptor cell survivalin vivousing optical coherence tomography
11. Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients
12. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
13. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
14. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
15. Label-free microfluidic enrichment of cancer cells from non-cancer cells in ascites
16. Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
17. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq
18. Cordova: Web-based management of genetic variation data
19. Additional file 3 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
20. Additional file 2 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
21. Additional file 1 of Exome-based investigation of the genetic basis of human pigmentary glaucoma
22. Human photoreceptor cells from different macular subregions have distinct transcriptional profiles
23. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
24. Advancing genetic testing for deafness with genomic technology
25. Exon-level expression profiling of ocular tissues
26. Prioritization of Retinal Disease Genes: An Integrative Approach
27. AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening
28. Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness
29. Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis
30. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
31. Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis
32. Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations
33. AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY.
34. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye
35. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
36. Primary congenital and developmental glaucomas
37. Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder
38. A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder
39. cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness
40. SQSTM1 Mutations and Glaucoma
41. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
42. Audioprofile Surfaces
43. Hypomorphic mutations inTRNT1cause retinitis pigmentosa with erythrocytic microcytosis
44. Genetic testing for congenital cataracts
45. Apparent Usher Syndrome Caused by the Combination ofBBS1-Associated Retinitis Pigmentosa andSLC26A4-Associated Deafness
46. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
47. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
48. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
49. Genomic Organization of TBK1Copy Number Variations in Glaucoma Patients
50. Audioprofile Surfaces.
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