Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
Am J Med Genet A
; : e63727, 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38808951
3.
Detection of mpox virus in ambient air in a sexual health clinic.
Arch Virol
; 168(8): 210, 2023 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486383
4.
nsP4 Is a Major Determinant of Alphavirus Replicase Activity and Template Selectivity.
J Virol
; 95(20): e0035521, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34319783
5.
Cross-utilisation of template RNAs by alphavirus replicases.
PLoS Pathog
; 16(9): e1008825, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886709
6.
Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1.
Am J Med Genet A
; 188(5): 1556-1561, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35019233
7.
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Ann Neurol
; 87(2): 217-232, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794073
8.
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3.
Am J Med Genet A
; 182(11): 2685-2693, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808436
9.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
10.
A Chikungunya Virus trans-Replicase System Reveals the Importance of Delayed Nonstructural Polyprotein Processing for Efficient Replication Complex Formation in Mosquito Cells.
J Virol
; 92(14)2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29695432
11.
Development, Evaluation, and Integration of a Quantitative Reverse-Transcription Polymerase Chain Reaction Diagnostic Test for Ebola Virus on a Molecular Diagnostics Platform.
J Infect Dis
; 214(suppl 3): S192-S202, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27247341
12.
Validation of a Reporter Cell Line for Flavivirus Inhibition Assays.
Microbiol Spectr
; : e0502722, 2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786659
13.
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.
Neuromuscul Disord
; 33(5): 410-416, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037050
14.
An RNA gene expressed during cortical development evolved rapidly in humans.
Nature
; 443(7108): 167-72, 2006 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-16915236
15.
Chikungunya Virus' High Genomic Plasticity Enables Rapid Adaptation to Restrictive A549 Cells.
Viruses
; 14(2)2022 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35215875
16.
Three doses of BNT162b2 vaccine confer neutralising antibody capacity against the SARS-CoV-2 Omicron variant.
NPJ Vaccines
; 7(1): 35, 2022 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260578
17.
Retrospective detection of asymptomatic monkeypox virus infections among male sexual health clinic attendees in Belgium.
Nat Med
; 28(11): 2288-2292, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35961373
18.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Acta Neuropathol Commun
; 10(1): 101, 2022 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35810298
19.
Control of viral replication after cessation of HAART.
AIDS Res Ther
; 8(1): 6, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21314914
20.
The CD147 Protein Complex Is Involved in Entry of Chikungunya Virus and Related Alphaviruses in Human Cells.
Front Microbiol
; 12: 615165, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33717005