Detalhe da pesquisa
1.
Linkage drag analysis in three Aegilops speltoides introgressions carrying Sr47 in modern durum and hard red spring wheat germplasm.
Theor Appl Genet
; 136(7): 168, 2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37410182
2.
PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication.
Mol Cell
; 52(4): 566-73, 2013 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24267451
3.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
4.
Structure of a preternary complex involving a prokaryotic NHEJ DNA polymerase.
Mol Cell
; 41(2): 221-31, 2011 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21255731
5.
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Am J Med Genet A
; 176(7): 1637-1640, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704308
6.
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.
Am J Med Genet A
; 176(5): 1108-1114, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383814
7.
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Hum Mol Genet
; 24(18): 5313-25, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130693
8.
Ultrasensitive molecular detection using thermal conductance of a hydrophobic gold-water interface.
Nano Lett
; 13(9): 4142-7, 2013 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23924145
9.
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.
Kidney Int
; 84(2): 327-37, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23536131
10.
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.
PLoS Genet
; 6(6): e1000992, 2010 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-20585555
11.
Superheating water by CW excitation of gold nanodots.
Nano Lett
; 12(3): 1534-7, 2012 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-22313363
12.
Identification of stable QTL controlling multiple yield components in a durum × cultivated emmer wheat population under field and greenhouse conditions.
G3 (Bethesda)
; 13(2)2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250796
13.
Identification of robust yield quantitative trait loci derived from cultivated emmer for durum wheat improvement.
Plant Genome
; : e20398, 2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876005
14.
Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.
Adv Ther
; 39(6): 2292-2301, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419651
15.
Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation.
Sci Rep
; 10(1): 2265, 2020 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041992
16.
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.
Hum Mutat
; 30(5): E612-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19306327
17.
Constitutional trisomy 8 and Behçet syndrome.
Am J Med Genet A
; 149A(5): 982-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353586
18.
Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32.
Am J Med Genet B Neuropsychiatr Genet
; 150B(4): 535-44, 2009 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18846500
19.
NHEJ protects mycobacteria in stationary phase against the harmful effects of desiccation.
DNA Repair (Amst)
; 6(9): 1271-6, 2007 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17360246
20.
Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.
Sci Rep
; 8(1): 459, 2018 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311702