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128 results on '"Leroy, B.P."'

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1. Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.

2. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

3. Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

5. A common NYX mutation in Flemish patients with X linked CSN

6. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

8. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

9. ERN-EYE: the European Reference Network dedicated to European patients with Rare Eye Diseases

11. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

12. Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290

13. The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

19. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

20. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa

29. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

30. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

31. Orbital cyst and bilateral colobomatous microphthalmos

32. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

33. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

34. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

42. Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction

43. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy

44. Identification and localization of the structural proteins of anguillid herpesvirus 1

45. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

46. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations

47. Identification and localization of the structural proteins of anguillid herpesvirus 1

48. Expanding the spectrum of FOXC1 and PITX2 mutations and copy nnumber changes in patients with anterior segment malformations.

49. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

50. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

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