Detalhe da pesquisa
1.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet
; 109(5): 928-943, 2022 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35397207
2.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Clin Genet
; 103(3): 330-334, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36273371
3.
A cross-reactive antibody protects against Ross River virus musculoskeletal disease despite rapid neutralization escape in mice.
PLoS Pathog
; 16(8): e1008743, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32760128
4.
Human monoclonal antibodies against Ross River virus target epitopes within the E2 protein and protect against disease.
PLoS Pathog
; 16(5): e1008517, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32365139
5.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Hum Mutat
; 42(10): 1221-1228, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34212438
6.
A Comparison of Prostate Cancer Detection between Visual Estimation (Cognitive Registration) and Image Fusion (Software Registration) Targeted Transperineal Prostate Biopsy.
J Urol
; 205(4): 1075-1081, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33207137
7.
Chromosome Deletion 1q43q44: A Case Review.
Neonatal Netw
; 38(2): 63-68, 2019 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31470368
8.
Discovery and Validation of Agonistic Angiotensin Receptor Autoantibodies as Biomarkers of Adverse Outcomes.
Circulation
; 135(5): 449-459, 2017 01 31.
Artigo
Inglês
| MEDLINE | ID: mdl-27903588
9.
Rapid and sensitive detection of viral nucleic acids using silicon microchips.
Analyst
; 143(11): 2596-2603, 2018 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-29741175
10.
Oesophageal atresia: Are "long gap" patients at greater anesthetic risk?
Paediatr Anaesth
; 28(3): 249-256, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29399924
11.
Reversal of neuromuscular block with neostigmine versus sugammadex: comment on Br J Anaesth 2021; 127: 316-23.
Br J Anaesth
; 129(1): e8-e10, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35469673
12.
Prevalence of Hepatitis E Virus Infection in Pigs at the Time of Slaughter, United Kingdom, 2013.
Emerg Infect Dis
; 21(8): 1396-401, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26196216
13.
Angiotensin receptor blocker use is associated with upregulation of the memory-protective angiotensin type 4 receptor (AT4R) in the postmortem brains of individuals without cognitive impairment.
Geroscience
; 45(1): 371-384, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35969296
14.
Higher Angiotensin II Type 1 Receptor Levels and Activity in the Postmortem Brains of Older Persons with Alzheimer's Dementia.
J Gerontol A Biol Sci Med Sci
; 77(4): 664-672, 2022 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34914835
15.
Assessing the Variability of Cell-Associated HIV DNA Quantification through a Multicenter Collaborative Study.
Microbiol Spectr
; 10(3): e0024322, 2022 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-35658711
16.
ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.
Small GTPases
; 12(3): 167-176, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31826708
17.
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients.
F1000Res
; 10: 207, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34354814
18.
Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.
Front Genet
; 12: 791495, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34917135
19.
Clinical validation of a quantitative HIV-1 DNA droplet digital PCR assay: Applications for detecting occult HIV-1 infection and monitoring cell-associated HIV-1 dynamics across different subtypes in HIV-1 prevention and cure trials.
J Clin Virol
; 139: 104822, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33930698
20.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Brain Commun
; 3(3): fcab163, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34423300