Detalhe da pesquisa
1.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29464339
2.
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.
Ophthalmology
; 126(8): 1181-1188, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30902645
3.
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
J Pathol Clin Res
; 9(4): 273-284, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36999983
4.
Unravelling homologous recombination repair deficiency and therapeutic opportunities in soft tissue and bone sarcoma.
EMBO Mol Med
; 15(4): e16863, 2023 04 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36779660
5.
Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment.
Sci Rep
; 12(1): 21502, 2022 12 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36513709
6.
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Invest Ophthalmol Vis Sci
; 59(6): 2345-2354, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29847639