Detalhe da pesquisa
1.
CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations.
Mol Cell
; 63(3): 526-38, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453044
2.
Clusterin Neutralizes the Inflammatory and Cytotoxic Properties of Extracellular Histones in Sepsis.
Am J Respir Crit Care Med
; 208(2): 176-187, 2023 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37141109
3.
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
J Med Genet
; 58(12): 796-805, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051313
4.
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
Rheumatology (Oxford)
; 60(12): 5863-5867, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764396
5.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
6.
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Hum Mol Genet
; 26(14): 2591-2602, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369373
7.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
J Med Genet
; 55(3): 173-180, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29070607
8.
Contribution of the precursors and interplay of the pathways in the phospholipid metabolism of the malaria parasite.
J Lipid Res
; 59(8): 1461-1471, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29853527
9.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Genes Chromosomes Cancer
; 56(2): 128-134, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27636706
10.
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.
Am J Med Genet A
; 170A(5): 1317-24, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833990
11.
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Hum Mutat
; 35(3): 294-7, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302632
12.
Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.
Hum Mol Genet
; 26(14): 2812, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472496
13.
An Investigation of the Wishes, Needs, Opportunities and Challenges of Accessing Meaningful Activities for People Living with Mild to Moderate Dementia.
Int J Environ Res Public Health
; 20(7)2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047971
14.
Living Well with Dementia: Feeling Empowered through Interaction with Their Social Environment.
Int J Environ Res Public Health
; 20(12)2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372667
15.
This is Me: Evaluation of a boardgame to promote social engagement, wellbeing and agency in people with dementia through mindful life-storytelling.
J Aging Stud
; 60: 100995, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248311
16.
The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins.
RNA
; 15(6): 1059-66, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19383768
17.
New Insights into Plant Extracellular DNA. A Study in Soybean Root Extracellular Trap.
Cells
; 10(1)2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33466245
18.
Assessing the generalisability of a multicentre qualitative dementia research: the experience and challenges faced by the MinD project in Europe.
Open Res Eur
; 1: 64, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-37645110
19.
The impact of the early phase of the COVID-19 pandemic on mental-health services in Europe.
World J Biol Psychiatry
; 22(7): 516-525, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33143529
20.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Eur J Hum Genet
; 29(1): 99-109, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32591635