Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2016 | 1 |
2017 | 2 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20.
Orphanet J Rare Dis. 2013.
PMID: 23379534
Free PMC article.
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
Riera M, Navarro R, Ruiz-Nogales S, Méndez P, Burés-Jelstrup A, Corcóstegui B, Pomares E.
Riera M, et al.
Sci Rep. 2017 Feb 9;7:42078. doi: 10.1038/srep42078.
Sci Rep. 2017.
PMID: 28181551
Free PMC article.
Item in Clipboard
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E.
Vincent A, et al.
Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281.
Invest Ophthalmol Vis Sci. 2016.
PMID: 27258436
Free article.
Item in Clipboard
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Motta FL, Salles MV, Costa KA, Filippelli-Silva R, Martin RP, Sallum JMF.
Motta FL, et al.
Sci Rep. 2017 Aug 17;7(1):8654. doi: 10.1038/s41598-017-09035-1.
Sci Rep. 2017.
PMID: 28819299
Free PMC article.
Item in Clipboard
Cite
Cite