Detalhe da pesquisa
1.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature
; 504(7480): 432-6, 2013 Dec 19.
Artigo
Inglês
| MEDLINE | ID: mdl-24213632
2.
c-Jun/c-Fos heterodimers regulate cellular genes via a newly identified class of methylated DNA sequence motifs.
Nucleic Acids Res
; 42(5): 3059-72, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24371273
3.
Genomic factors related to tissue tropism in Chlamydia pneumoniae infection.
BMC Genomics
; 16: 268, 2015 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25887605
4.
Rare variants in LRRK1 and Parkinson's disease.
Neurogenetics
; 15(1): 49-57, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24241507
5.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Am J Hum Genet
; 88(6): 788-795, 2011 Jun 10.
Artigo
Inglês
| MEDLINE | ID: mdl-21620353
6.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Am J Hum Genet
; 89(1): 168-75, 2011 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21763483
7.
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Brain
; 136(Pt 4): 1155-60, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23518707
8.
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.
BMC Genomics
; 14: 446, 2013 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23826801
9.
Diagnostic applications of next generation sequencing in immunogenetics and molecular oncology.
Transfus Med Hemother
; 40(3): 196-206, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23922545
10.
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
Mamm Genome
; 23(7-8): 416-30, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22527485
11.
CpG-methylation regulates a class of Epstein-Barr virus promoters.
PLoS Pathog
; 6(9): e1001114, 2010 Sep 23.
Artigo
Inglês
| MEDLINE | ID: mdl-20886097
12.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Eur J Hum Genet
; 30(9): 1017-1021, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35577938
13.
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Hum Mutat
; 31(11): E1851-60, 2010 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-20848658
14.
Determining the relationship of gene expression and global mRNA stability in Drosophila melanogaster and Escherichia coli using linear models.
Gene
; 424(1-2): 102-7, 2008 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18755255
15.
Guidelines for diagnostic next-generation sequencing.
Eur J Hum Genet
; 24(1): 2-5, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26508566
16.
Rare variants in PLXNA4 and Parkinson's disease.
PLoS One
; 8(11): e79145, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24244438
17.
Guidelines for diagnostic next-generation sequencing.
Eur J Hum Genet
; 24(10): 1515, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27628564
18.
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery.
Genome Biol
; 10(8): R82, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19660108