119 results on '"Musarella, Maria A."'
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2. Neurocutaneous Syndromes
3. X-Linked Retinitis Pigmentosa: Current Status
4. Studies Toward the Isolation of the RP3 Gene
5. Localizing Multiple X Chromosome-Linked Retinitis Pigmentosa Loci Using Multilocus Homogeneity Tests
6. Cloning of the Esterase D Gene: A Polymorphic Gene Probe Closely Linked to the Retinoblastoma Locus on Chromosome 13
7. Molecular genetics of macular degeneration
8. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
9. Retinoschisis, Juvenile (X‐Linked)
10. OA1 (ital) mutations and deletions in X-linked ocular albinism
11. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
12. Ocular genetics: current understanding
13. Symmetrical Bilateral Lens Colobomas in Two Brothers
14. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
15. Mutation Analysis of 3 Genes in Patients With Leber Congenital Amaurosis
16. Congenital Stationary Night Blindness
17. Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age
18. Extraocular Muscle Proprioception and Visual Function: Psychophysical Aspects
19. Current Concepts in the Treatment of Retinitis Pigmentosa
20. Neurocutaneous Syndromes
21. Primary angle closure glaucoma and retinitis pigmentosa
22. Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays
23. Neurocutaneous Syndromes.
24. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
25. Mutations in MKKS cause Bardet-Biedl syndrome
26. First African-American child with juvenile neuronal ceroid lipofuscinosis
27. First African‐American child with juvenile neuronal ceroid lipofuscinosis
28. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
29. OA1 Mutations and Deletions in X-Linked Ocular Albinism
30. Spectrum of Mutations in the RPGR Gene That Are Identified in 20% of Families with X-Linked Retinitis Pigmentosa
31. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
32. Novel mutations of theP gene in type II oculocutaneous albinism (OCA2)
33. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)
34. Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3
35. Characterization of the Ocular Phenotype of Duchenne and Becker Muscular Dystrophy
36. The ocular pathology in Leber's congenital amaurosis
37. Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex
38. Dystrophin expression in the human retina is required for normal function as defined by electroretinography
39. Dinucleotide repeat polymorphism near the RP3 locus in Xp21 (DXS1110)
40. The Optic Disc in Leber Congenital Amaurosis
41. The Spectrum of Associated Ocular and Systemic Malformations
42. Gene mapping of ocular diseases
43. Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis
44. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis
45. Linkage analysis in X-linked ocular albinism
46. Response
47. Partial deletions of a sequence family (“DXS278”) and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis
48. Clinical Spectrum of Leber's Congenital Amaurosis in the Second to Fourth Decades of Life
49. Mapping of the X-linked recessive retinitis pigmentosa gene
50. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
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