Detalhe da pesquisa
1.
Sequencing of the Viral UL111a Gene Directly from Clinical Specimens Reveals Variants of HCMV-Encoded IL-10 That Are Associated with Altered Immune Responses to HCMV.
Int J Mol Sci
; 23(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563032
2.
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Am J Hum Genet
; 93(2): 384-9, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23910460
3.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746549
4.
Respiratory Infection- and Asthma-prone, Low Vaccine Responder Children Demonstrate Distinct Mononuclear Cell DNA Methylation Pathways.
Res Sq
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645021
5.
Sequencing Directly from Clinical Specimens Reveals Genetic Variations in HCMV-Encoded Chemokine Receptor US28 That May Influence Antibody Levels and Interactions with Human Chemokines.
Microbiol Spectr
; 9(2): e0002021, 2021 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704798
6.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol
; 7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153140
7.
Detection of arboviruses and other micro-organisms in experimentally infected mosquitoes using massively parallel sequencing.
PLoS One
; 8(2): e58026, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23460918
8.
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
Neuromuscul Disord
; 23(2): 165-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23218673
9.
Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform.
J Microbiol Methods
; 91(1): 80-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22849830