Detalhe da pesquisa
1.
Desymmetrization of difluoromethylene groups by C-F bond activation.
Nature
; 583(7817): 548-553, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480398
2.
The induction of p53 correlates with defects in the production, but not the levels, of the small ribosomal subunit and stalled large ribosomal subunit biogenesis.
Nucleic Acids Res
; 51(17): 9397-9414, 2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37526268
3.
Molecular Additives Improve the Selectivity of CO2 Photoelectrochemical Reduction over Gold Nanoparticles on Gallium Nitride.
Nano Lett
; 24(4): 1090-1095, 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38230969
4.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
5.
Validation of low-pass genome sequencing for prenatal diagnosis.
Prenat Diagn
; 44(4): 443-453, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279846
6.
Comparing transfusion practice at multiple hospitals using electronically collected and analysed data.
Transfus Med
; 33(6): 453-459, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37782004
7.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
J Med Genet
; 59(6): 571-578, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875564
8.
RNA helicase-mediated regulation of snoRNP dynamics on pre-ribosomes and rRNA 2'-O-methylation.
Nucleic Acids Res
; 49(7): 4066-4084, 2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721027
9.
Organic Additive-derived Films on Cu Electrodes Promote Electrochemical CO2 Reduction to C2+ Products Under Strongly Acidic Conditions.
Angew Chem Int Ed Engl
; 62(12): e202216102, 2023 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36656130
10.
Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.
Prenat Diagn
; 42(7): 822-830, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35089622
11.
Higher body mass index raises immature platelet count: potential contribution to obesity-related thrombosis.
Platelets
; 33(6): 869-878, 2022 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35068290
12.
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
J Med Genet
; 58(4): 275-283, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581083
13.
Plasma Proteomics of Renal Function: A Transethnic Meta-Analysis and Mendelian Randomization Study.
J Am Soc Nephrol
; 32(7): 1747-1763, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135082
14.
Community transmission of monkeypox in the United Kingdom, April to May 2022.
Euro Surveill
; 27(22)2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35656834
15.
Effects of adiposity on the human plasma proteome: observational and Mendelian randomisation estimates.
Int J Obes (Lond)
; 45(10): 2221-2229, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34226637
16.
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care.
Genet Med
; 23(6): 1086-1094, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654192
17.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Clin Genet
; 98(6): 613-619, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888207
18.
Convalescent plasma treatment for SARS-CoV-2 infection: analysis of the first 436 donors in England, 22 April to 12 May 2020.
Euro Surveill
; 25(28)2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32700670
19.
Variant classification changes over time in BRCA1 and BRCA2.
Genet Med
; 21(10): 2248-2254, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971832
20.
Correction: Variant classification changes over time in BRCA1 and BRCA2.
Genet Med
; 21(10): 2406-2407, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31043710