Detalhe da pesquisa
1.
Emergence of SARS-CoV-2 Variant B.1.575.2, Containing the E484K Mutation in the Spike Protein, in Pamplona, Spain, May to June 2021.
J Clin Microbiol
; 59(12): e0173621, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34495709
2.
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia.
Nature
; 475(7354): 101-5, 2011 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642962
3.
A small-cell lung cancer genome with complex signatures of tobacco exposure.
Nature
; 463(7278): 184-90, 2010 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20016488
4.
A comprehensive catalogue of somatic mutations from a human cancer genome.
Nature
; 463(7278): 191-6, 2010 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20016485
5.
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome.
Am J Hum Genet
; 88(5): 650-6, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549337
6.
Genome analysis of the platypus reveals unique signatures of evolution.
Nature
; 453(7192): 175-83, 2008 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18464734
7.
The Degradome database: mammalian proteases and diseases of proteolysis.
Nucleic Acids Res
; 37(Database issue): D239-43, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18776217
8.
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Acta Ophthalmol
; 98(8): e1034-e1048, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483926
9.
Proteolytic systems: constructing degradomes.
Methods Mol Biol
; 539: 33-47, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19377972
10.
New Chondrosarcoma Cell Lines with Preserved Stem Cell Properties to Study the Genomic Drift During In Vitro/In Vivo Growth.
J Clin Med
; 8(4)2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30987403
11.
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
BMC Med Genomics
; 11(1): 58, 2018 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29986705
12.
A novel molecular diagnostics platform for somatic and germline precision oncology.
Mol Genet Genomic Med
; 5(4): 336-359, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28717660
13.
A Next-Generation Sequencing Strategy for Evaluating the Most Common Genetic Abnormalities in Multiple Myeloma.
J Mol Diagn
; 19(1): 99-106, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863261
14.
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Thromb Haemost
; 117(1): 66-74, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27734074
15.
Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene.
Eur J Hum Genet
; 28(4): 401-402, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31527855
16.
Identification of novel tumor suppressor proteases by degradome profiling of colorectal carcinomas.
Oncotarget
; 4(11): 1919-32, 2013 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24243807
17.
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.
Nat Genet
; 44(1): 47-52, 2011 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22158541
18.
Metalloproteases and the degradome.
Methods Mol Biol
; 622: 3-29, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20135273
19.
Loss of genes implicated in gastric function during platypus evolution.
Genome Biol
; 9(5): R81, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18482448
20.
Comparative genomic analysis of human and chimpanzee proteases.
Genomics
; 86(6): 638-47, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16162398