Detalhe da pesquisa
1.
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Am J Hum Genet
; 104(5): 957-967, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006512
2.
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Hum Mol Genet
; 26(1): 19-32, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798113
3.
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Hum Mol Genet
; 21(10): 2181-93, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328085
4.
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Hum Genet
; 133(8): 1023-39, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24748105
5.
Hepmarc: A 96 week randomised controlled feasibility trial of add-on maraviroc in people with HIV and non-alcoholic fatty liver disease.
PLoS One
; 18(7): e0288598, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450478
6.
The Early Youth Engagement in first episode psychosis (EYE-2) study: pragmatic cluster randomised controlled trial of implementation, effectiveness and cost-effectiveness of a team-based motivational engagement intervention to improve engagement.
Trials
; 22(1): 272, 2021 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33845856
7.
Protocol for a phase IV, open-label feasibility study investigating non-invasive markers of hepatic fibrosis in people living with HIV-1 and non-alcoholic fatty liver disease randomised to receiving optimised background therapy (OBT) plus maraviroc or OBT alone.
BMJ Open
; 10(7): e035596, 2020 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636281
8.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
JCI Insight
; 1(3): e85461, 2016 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27699255
9.
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
DNA Repair (Amst)
; 12(8): 637-44, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23706772