36 results on '"Lloyd, I. Christopher"'
Search Results
2. Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
3. Contributors
4. Congenital and pediatric cataract is not a diagnosis: important systemic disorders a pediatric ophthalmologist doesn't want to miss
5. Surgical techniques in strabismus: an international masterclass
6. Clinical spectrum of ectopia lentis presenting to a specialist children’s hospital
7. The Use of Autozygosity Mapping and Next-Generation Sequencing in Understanding Anterior Segment Defects Caused by an Abnormal Development of the Lens
8. Additional file 1 of Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
9. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
10. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization
11. AAPOS Genetic Eye Disease Committee Workshop—hiding in plain sight: genetic disorders in routine pediatric practice
12. Educational paper: Congenital and infantile cataract: aetiology and management
13. Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force
14. Nidek MP-1 microperimetry and Fourier domain optical coherence tomography (FD-OCT) in X linked retinoschisis
15. Headache and Visual Loss
16. GEOGRAPHICAL DISTRIBUTION OF OPTIC NERVE HYPOPLASIA AND SEPTO-OPTIC DYSPLASIA IN NORTHWEST ENGLAND
17. AAPOS Genetic Eye Disease Committee workshop: does this patient have a genetic eye disease? should I refer?
18. AAPOS Genetic Task Force Workshop: does this patient have a genetic eye disease? should I refer?
19. Molecular findings from 537 individuals with inherited retinal disease
20. Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract
21. Mutations inSIPA1L3cause eye defects through disruption of cell polarity and cytoskeleton organization
22. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
23. Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing
24. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy
25. Pediatric cataract—international perspectives
26. Educational paper
27. Combined trabeculotomy-trabeculectomy augmented with 5-fluorouracil in paediatric glaucoma
28. Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a ProvenBBS1Mutation
29. Aspects of metabolic disease and the eye
30. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene,TMEM114, expressed in the lens and disrupted by the translocation
31. Ocular motor outcomes after bilateral and unilateral infantile cataracts
32. Intraocular lens implantation in infants
33. Congenital and infantile cataract: aetiology and management.
34. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
35. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
36. Nidek MP-1 microperimetry and Fourier domain optical coherence tomography (FD-OCT) in X linked retinoschisis.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.