Found: 10
Select item for more details and to access through your institution.
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-122
- By:
- Publication type:
- Article
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.
- Published in:
- 2013
- By:
- Publication type:
- journal article
VEP maturation and visual acuity in infants and preschool children.
- Published in:
- Documenta Ophthalmologica, 2008, v. 117, n. 2, p. 111, doi. 10.1007/s10633-007-9111-8
- By:
- Publication type:
- Article
Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up- Regulation of Macrophages.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013127
- By:
- Publication type:
- Article
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1318, doi. 10.1038/ejhg.2014.283
- By:
- Publication type:
- Article
Clinical Heterogeneity in a Family With Mutations in USH2A.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 352, doi. 10.1001/jamaophthalmol.2014.5163
- By:
- Publication type:
- Article
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
- By:
- Publication type:
- Article
Atypical presentation of CRB1 retinopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 6, p. e513, doi. 10.1111/aos.12997
- By:
- Publication type:
- Article
Efficacy of 12-month treatment of neovascular age-related macular degeneration with intravitreal bevacizumab based on individually determined injection strategies after three consecutive monthly injections.
- Published in:
- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 7, p. 647, doi. 10.1111/j.1755-3768.2009.01740.x
- By:
- Publication type:
- Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
- By:
- Publication type:
- Article