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1.
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Ophthalmology
; 121(1): 399-407, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24144451
2.
Late onset retinitis pigmentosa.
Ophthalmology
; 118(12): 2523-4, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22136677
3.
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Invest Ophthalmol Vis Sci
; 55(11): 7562-71, 2014 Oct 23.
Article
in English
| MEDLINE | ID: mdl-25342620
4.
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
PLoS One
; 8(6): e65574, 2013.
Article
in English
| MEDLINE | ID: mdl-23940504
5.
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Orphanet J Rare Dis
; 8: 20, 2013 Feb 05.
Article
in English
| MEDLINE | ID: mdl-23379534
6.
Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.
PLoS One
; 11(3): e0153121, 2016.
Article
in English
| MEDLINE | ID: mdl-27031522
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