Detalhe da pesquisa
1.
Transcriptome and genome sequencing uncovers functional variation in humans.
Nature
; 501(7468): 506-11, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037378
2.
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
Prenat Diagn
; 39(11): 1011-1015, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31429096
3.
Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.
Ann Rheum Dis
; 72(1): 96-103, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22730365
4.
Imaging single DNA molecules for high precision NIPT.
Sci Rep
; 8(1): 4549, 2018 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540801
5.
[High time to introduce "eCall" system for quicker help to injured in traffic accidents]. / Hög tid införa "eCall"-system för snabbare hjälp till trafikskadade.
Lakartidningen
; 108(15): 871, 2011.
Artigo
em Sueco
| MEDLINE | ID: mdl-21674977
6.
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
Eur J Hum Genet
; 24(8): 1117-23, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733290
7.
Deep amplicon sequencing of preselected isolates of Parascaris equorum in ß-tubulin codons associated with benzimidazole resistance in other nematodes.
Parasit Vectors
; 7: 410, 2014 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25175357
8.
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
J Clin Pathol
; 67(12): 1099-103, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25271213
9.
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
Nat Biotechnol
; 31(11): 1015-22, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037425
10.
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.
PLoS One
; 6(2): e16486, 2011 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21347407
11.
Deep origin of plastid/parasite ATP/ADP translocases.
J Mol Evol
; 56(2): 137-50, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12574860
12.
On the origin of mitochondria: a genomics perspective.
Philos Trans R Soc Lond B Biol Sci
; 358(1429): 165-77; discussion 177-9, 2003 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-12594925
13.
Five-member gene family of Bartonella quintana.
Infect Immun
; 71(2): 814-21, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12540561
14.
Comparative genomics of microbial pathogens and symbionts.
Bioinformatics
; 18 Suppl 2: S17, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12385978
15.
Proteomic analysis of the sarcosine-insoluble outer membrane fraction of the bacterial pathogen Bartonella henselae.
Proteomics
; 4(10): 3021-33, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15378747