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5. Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene

6. Novel Mutations of the RPGR Gene in RP3 Families

8. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

9. OP02. NOVEL DNA METHYLATION LANDSCAPE OF METASTATIC COLORECTAL CANCER REVEALS SIGNIFICANT EPIGENETIC REGULATION OF DISEASEASSOCIATED ENHANCER REGIONS

10. Innate and adaptive gene single nucleotide polymorphisms associated with susceptibility of severe inflammatory complications in acanthamoeba keratitis

11. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

12. S02. TUMOUR RISKS AND GENOTYPE-PHENOTYPE ANALYSIS IN AN IRISH COHORT OF PATIENTS WITH GERMLINE MUTATIONS IN THE SUCCINATE DEHYDROGENASE SUBUNIT GENES SDHB, SDHC AND SDHD

13. Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome

14. Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen

15. RPGR mutation associate with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

16. Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

17. Pheno4J: A gene to phenotype graph database

18. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

19. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

20. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

21. Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhauser Syndrome and Central Corneal Thickness

22. Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

28. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

29. A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families

30. Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

31. Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

32. Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

33. Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.

34. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

35. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.

36. Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

37. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

38. Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.

39. Foveal Cone Structure in Patients With Blue Cone Monochromacy.

40. Personalized Model to Predict Keratoconus Progression From Demographic, Topographic, and Genetic Data.

41. Novel disease-causing variants and phenotypic features of X-linked megalocornea.

42. Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.

43. Innate and Adaptive Gene Single Nucleotide Polymorphisms Associated With Susceptibility of Severe Inflammatory Complications in Acanthamoeba Keratitis.

44. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

45. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

46. Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.

47. A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.

48. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

49. CUGC for posterior polymorphous corneal dystrophy (PPCD).

50. Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

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