45 results on '"Kearns, Lisa S."'
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2. Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
3. Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
4. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
5. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
6. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
7. Establishing risk of vision loss in Leber hereditary optic neuropathy
8. Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry
9. OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy
10. Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
11. Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
12. Development of a Modular Automated System for Maintenance and Differentiation of Adherent Human Pluripotent Stem Cells
13. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy
14. Gene-Based Therapies for Leber Hereditary Optic Neuropathy. Hype or Hope?
15. Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking
16. Effectiveness of a Binocular Video Game vs Placebo Video Game for Improving Visual Functions in Older Children, Teenagers, and Adults With Amblyopia: A Randomized Clinical Trial
17. Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort
18. Pathogenic genetic variants identified in Australian families with paediatric cataract
19. New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics
20. Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review
21. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations
22. Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
23. Adherence to home-based videogame treatment for amblyopia in children and adults
24. Adherence to home-based videogame treatment for amblyopia in children and adults
25. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
26. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
27. The genetic and clinical landscape of nanophthalmos in an Australian cohort
28. The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy
29. Prevalence ofFOXC1Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
30. CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
31. Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma
32. Congenital glaucoma with anterior segment dysgenesis in individuals with biallelicCPAMD8variants
33. Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign
34. Erratum: Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
35. Generation of a human induced pluripotent stem cell line CERAi001-A-6 using episomal vectors
36. Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
37. Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy
38. Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
39. Development of a modular automated system for maintenance and differentiation of adherent human pluripotent stem cells
40. Response: Cycloplegia in refraction: age and cycloplegics
41. Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
42. Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy
43. Family and genetic counseling in Leber hereditary optic neuropathy.
44. Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.
45. Heterogeneity of Human Research Ethics Committees and Research Governance Offices across Australia: An observational study.
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