Detalhe da pesquisa
1.
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Am J Hum Genet
; 111(2): 309-322, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272032
2.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Brain
; 146(11): 4766-4783, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437211
3.
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clin Genet
; 101(2): 208-213, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708403
4.
Impact of genetic counseling on the uptake of contralateral prophylactic mastectomy among younger women with breast cancer.
Acta Oncol
; 59(1): 60-65, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379231
5.
Endogenous retroviruses and multiple sclerosis-new pieces to the puzzle.
BMC Neurol
; 13: 111, 2013 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23984932
6.
Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Sci Rep
; 13(1): 8536, 2023 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237042
7.
The clinical use of polygenic risk scores.
Ugeskr Laeger
; 185(39)2023 09 25.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-37873989
8.
Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five.
Mol Genet Genomic Med
; 8(9): e1381, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573125
9.
Population frequencies of pathogenic alleles of BRCA1 and BRCA2: analysis of 173 Danish breast cancer pedigrees using the BOADICEA model.
Fam Cancer
; 18(4): 381-388, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31435815
10.
Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
NPJ Breast Cancer
; 5: 44, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754629
11.
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
NPJ Breast Cancer
; 5: 23, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428676
12.
Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.
Sci Rep
; 13(1): 15294, 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714994
13.
Effects of centralizing acute stroke services: A prospective cohort study.
Neurology
; 91(3): e236-e248, 2018 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907609
14.
Thrombolysis in acute ischemic stroke is associated with lower long-term hospital bed day use: A nationwide propensity score-matched follow-up study.
Int J Stroke
; 11(8): 910-916, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27312677
15.
Restriction genes for retroviruses influence the risk of multiple sclerosis.
PLoS One
; 8(9): e74063, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24066097