27 results on '"O'Byrne, James J"'
Search Results
2. Variant reclassification and clinical implications
3. The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review
4. Pediatric Clinical Genetics
5. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
6. Pediatric Clinical Genetics
7. P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration
8. MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report
9. Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency
10. Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population
11. Pediatric Clinical Genetics
12. Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing
13. Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations
14. Management of significant secondary genetic findings in an ophthalmic genetics clinic
15. The future of genomics in Ireland – focus on genomics for health
16. Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction
17. Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
18. The genetic and biochemical basis of trimethylaminuria in an Irish cohort
19. Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
20. The genotypic and phenotypic spectrum of MTO1 deficiency
21. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
22. Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness
23. Incidence of Fragile X syndrome in Ireland
24. Cover Image, Volume 173A, Number 1, January 2017
25. Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation
26. Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings
27. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
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