Detalhe da pesquisa
1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579670
2.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469793
3.
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
PLoS Genet
; 17(2): e1009306, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33635866
4.
COVID-19 vaccine effectiveness against symptomatic infection with SARS-CoV-2 BA.1/BA.2 lineages among adults and adolescents in a multicentre primary care study, Europe, December 2021 to June 2022.
Euro Surveill
; 29(13)2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551095
5.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
6.
Vaccine effectiveness against COVID-19 hospitalisation in adults (≥â¯20 years) during Omicron-dominant circulation: I-MOVE-COVID-19 and VEBIS SARI VE networks, Europe, 2021 to 2022.
Euro Surveill
; 28(47)2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37997665
7.
Liver Injury after Selective Androgen Receptor Modulator Intake: A Case Report and Review of the Literature.
Z Gastroenterol
; 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37871633
8.
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Clin Genet
; 102(2): 98-109, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616059
9.
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
BMC Cancer
; 22(1): 706, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761208
10.
Generation of a Porcine Antibody Fab Fragment Using Protein Engineering to Facilitate the Evaluation of Ocular Sustained Delivery Technology.
Mol Pharm
; 19(5): 1540-1547, 2022 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393854
11.
Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.
Breast Cancer Res
; 21(1): 55, 2019 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036035
12.
Designing Stationary Reaction-Diffusion Patterns in pH Self-Activated Systems.
Acc Chem Res
; 51(12): 3183-3190, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412377
13.
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
Breast Cancer Res
; 20(1): 7, 2018 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368626
14.
Short pulse width in subthalamic stimulation in Parkinson's disease: a randomized, double-blind study.
Mov Disord
; 33(1): 169-173, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266392
15.
[Genetic aspects of movement disorders of adulthood]. / Aspects génétiques des mouvements anormaux de l'âge adulte.
Rev Med Suisse
; 14(604): 879-882, 2018 Apr 25.
Artigo
em Francês
| MEDLINE | ID: mdl-29701433
16.
[Movement disorders emergencies]. / Mouvements anormaux aux urgences.
Rev Med Suisse
; 14(604): 888-891, 2018 Apr 25.
Artigo
em Francês
| MEDLINE | ID: mdl-29701435
17.
[Advanced Parkinson's disease : indication for complex treatments]. / Maladie de Parkinson au stade avancé : indication aux traitements complexes.
Rev Med Suisse
; 14(604): 875-878, 2018 Apr 25.
Artigo
em Francês
| MEDLINE | ID: mdl-29701432
18.
Prevalence of BRCA1/2 germline mutations in 21â 401 families with breast and ovarian cancer.
J Med Genet
; 53(7): 465-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928436
19.
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.
Cerebellum
; 15(6): 829-831, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607151
20.
Vaccine effectiveness in preventing laboratory-confirmed influenza in primary care patients in a season of co-circulation of influenza A(H1N1)pdm09, B and drifted A(H3N2), I-MOVE Multicentre Case-Control Study, Europe 2014/15.
Euro Surveill
; 21(7): pii=30139, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26924024