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1.
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Mol Biol Evol
; 33(5): 1205-18, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26764160
2.
The role of the interactome in the maintenance of deleterious variability in human populations.
Mol Syst Biol
; 10: 752, 2014 Sep 26.
Article
in English
| MEDLINE | ID: mdl-25261458
3.
Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
BMC Genet
; 15: 143, 2014 Dec 14.
Article
in English
| MEDLINE | ID: mdl-25494902
4.
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Mol Vis
; 19: 2187-95, 2013.
Article
in English
| MEDLINE | ID: mdl-24227914
5.
Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq).
Nat Commun
; 7: 12339, 2016 08 17.
Article
in English
| MEDLINE | ID: mdl-27531712
6.
Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
PLoS One
; 9(12): e116176, 2014.
Article
in English
| MEDLINE | ID: mdl-25544989
7.
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.
Mol Genet Genomic Med
; 2(2): 124-33, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24689075
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