Detalhe da pesquisa
1.
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
Gastroenterology
; 165(1): 162-172.e5, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-36907526
2.
Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation.
Bioorg Med Chem
; 99: 117596, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38232459
3.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32990755
4.
Normalization of DNA encoded library affinity selection results driven by high throughput sequencing and HPLC purification.
Bioorg Med Chem
; 40: 116178, 2021 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33933914
5.
Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.
Eur Arch Psychiatry Clin Neurosci
; 268(6): 585-592, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28421333
6.
Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.
Int J Legal Med
; 131(5): 1211-1219, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28391405
7.
BigBWA: approaching the Burrows-Wheeler aligner to Big Data technologies.
Bioinformatics
; 31(24): 4003-5, 2015 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26323715
8.
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease.
J Med Genet
; 51(7): 475-8, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24744435
9.
Adaptive selection of an incretin gene in Eurasian populations.
Genome Res
; 21(1): 21-32, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20978139
10.
Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.
Electrophoresis
; 35(21-22): 3111-6, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24981977
11.
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Neurol Genet
; 10(2): e200138, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38544965
12.
Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing.
Mol Diagn Ther
; 27(1): 105-113, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36454422
13.
Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding site prediction.
Nucleic Acids Res
; 38(7): 2332-45, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20061373
14.
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Eur J Hum Genet
; 30(8): 938-945, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35322241
15.
ENGINES: exploring single nucleotide variation in entire human genomes.
BMC Bioinformatics
; 12: 105, 2011 Apr 19.
Artigo
Inglês
| MEDLINE | ID: mdl-21504571
16.
Call for participation in the neurogenetics consortium within the Human Variome Project.
Neurogenetics
; 12(3): 169-73, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21630033
17.
The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome.
BMC Genet
; 12: 77, 2011 Aug 30.
Artigo
Inglês
| MEDLINE | ID: mdl-21878127
18.
Longitudinal analysis on parasite diversity in honeybee colonies: new taxa, high frequency of mixed infections and seasonal patterns of variation.
Sci Rep
; 10(1): 10454, 2020 06 26.
Artigo
Inglês
| MEDLINE | ID: mdl-32591554
19.
Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data.
Front Genet
; 11: 581041, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33193704
20.
Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes.
BMC Bioinformatics
; 10 Suppl 3: S5, 2009 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-19344481