Search

Your search keyword '"Lloyd, IC"' showing total 97 results

Search Constraints

Start Over You searched for: Author "Lloyd, IC" Remove constraint Author: "Lloyd, IC"
97 results on '"Lloyd, IC"'

Search Results

1. Impact of Bacillus Calmette-Guerin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

2. Functional analysis of a novel homeodomain missense mutation that abrogates HMX1 protein function; confirming the molecular basis of oculo- auricular syndrome

3. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

6. Congenital and infantile cataract: aetiology and management.

7. Intraocular lens implantation in infants.

8. Abusive head trauma and the eye in infants and children - clinical guideline update by the royal college of ophthalmologists and the royal college of paediatrics and child health: executive summary.

9. Study of Optimal Perimetric Testing In Children (OPTIC): developing consensus and setting research priorities for perimetry in the management of children with glaucoma.

10. Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

11. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation.

13. EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

14. Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

15. Cataract management in children: a review of the literature and current practice across five large UK centres.

16. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

17. Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

19. Clinical and genetic variability in children with partial albinism.

20. Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

21. Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.

22. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

23. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

24. Molecular findings from 537 individuals with inherited retinal disease.

25. Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

26. Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

27. Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.

28. Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

29. Tuberculous Orbital Apex Syndrome with Severe Irreversible Visual Loss.

30. Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

31. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

32. Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

33. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

34. Personalized diagnosis and management of congenital cataract by next-generation sequencing.

35. Anterior segment OCT imaging in mucopolysaccharidoses type I, II, and VI.

36. The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens.

40. Clinical review of periorbital capillary hemangioma of infancy.

41. Combined trabeculotomy-trabeculectomy augmented with 5-fluorouracil in paediatric glaucoma.

43. Utility of optic pathway glioma screening in young children with neurofibromatosis type I: questions generated by a clinical audit.

45. De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.

47. Duration of form deprivation and visual outcome in infants with bilateral congenital cataracts.

49. Presumed early-onset sarcoidosis: a case of devastating ocular inflammation in an infant.

50. PHACE syndrome.

Catalog

Books, media, physical & digital resources