Detalhe da pesquisa
1.
Chronic shedding of a SARS-CoV-2 Alpha variant in wastewater.
BMC Genomics
; 25(1): 59, 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218804
2.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
3.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genet Med
; 24(2): 293-306, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906454
4.
Basement membrane defects in CD151-associated glomerular disease.
Pediatr Nephrol
; 37(12): 3105-3115, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278129
5.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Pediatr Nephrol
; 37(11): 2643-2656, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211795
6.
Genetic testing for familial hypercholesterolemia-past, present, and future.
J Lipid Res
; 62: 100139, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34666015
7.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Am J Med Genet A
; 185(4): 1228-1235, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439541
8.
Extended-Spectrum ß-Lactamase and Carbapenemase Genes are Substantially and Sequentially Reduced during Conveyance and Treatment of Urban Sewage.
Environ Sci Technol
; 55(9): 5939-5949, 2021 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33886308
9.
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Ann Hum Genet
; 83(5): 291-298, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30994193
10.
Association of circulating adipokine concentrations with indices of adiposity and sex in healthy, adult client owned cats.
BMC Vet Res
; 15(1): 332, 2019 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31533709
11.
Toward interprofessional service-learning and social accountability in health: One South African University's process-oriented-participatory journey.
J Interprof Care
; 33(3): 291-294, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321087
12.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 57(3): 380-387, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053898
13.
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
J Med Genet
; 54(4): 217-223, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821657
14.
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
J Med Genet
; 54(12): 795-804, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28780565
15.
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
J Med Genet
; 54(12): 830-835, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074562
16.
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.
J Am Soc Nephrol
; 28(5): 1614-1621, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932480
17.
Antimicrobial Resistance in the Environment.
Water Environ Res
; 90(10): 865-884, 2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30126468
18.
COMPARISON OF THE EFFICACY AND SAFETY OF MEDETOMIDINE-KETAMINE VERSUS MEDETOMIDINE-AZAPERONE-ALFAXALONE COMBINATION IN FREE-RANGING ROCKY MOUNTAIN BIGHORN SHEEP ( OVIS CANADENSIS).
J Zoo Wildl Med
; 49(3): 662-670, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30212345
19.
Quantification of microRNAs directly from body fluids using a base-stacking isothermal amplification method in a point-of-care device.
Biomed Microdevices
; 19(3): 45, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28536858
20.
TCDD administered on activated carbon eliminates bioavailability and subsequent shifts to a key murine gut commensal.
Appl Microbiol Biotechnol
; 101(19): 7409-7415, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28812142