Detalhe da pesquisa
1.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
2.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Genet Med
; 26(6): 101102, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38431799
3.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
4.
De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
Genet Med
; 25(7): 100859, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092538
5.
Novel CIC variants identified in individuals with neurodevelopmental phenotypes.
Hum Mutat
; 43(7): 889-899, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165976
6.
Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Pediatr Diabetes
; 22(7): 960-968, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387403
7.
Discovery of the pan-genotypic hepatitis C virus NS3/4A protease inhibitor voxilaprevir (GS-9857): A component of Vosevi®.
Bioorg Med Chem Lett
; 29(16): 2428-2436, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31133531
8.
Identification of putative ecdysteroid and juvenile hormone pathway genes in the shrimp Neocaridina denticulata.
Gen Comp Endocrinol
; 214: 167-76, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25101838
9.
Robust and persistent replication of the genotype 6a hepatitis C virus replicon in cell culture.
Antimicrob Agents Chemother
; 58(5): 2638-46, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550344
10.
Development of robust hepatitis C virus genotype 4 subgenomic replicons.
Gastroenterology
; 144(1): 59-61.e6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23000598
11.
Surgical outcomes following resection for sporadic abdominal wall fibromatosis.
Ann Surg Oncol
; 21(7): 2144-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24604586
12.
Budget impact of introducing subcutaneous vedolizumab as a maintenance therapy in biologic-naïve and biologic-experienced patients with ulcerative colitis in France.
Expert Rev Pharmacoecon Outcomes Res
; 23(2): 205-213, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541707
13.
Selection of clinically relevant protease inhibitor-resistant viruses using the genotype 2a hepatitis C virus infection system.
Antimicrob Agents Chemother
; 55(5): 2197-205, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21357305
14.
Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.
Sci Rep
; 11(1): 6602, 2021 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33758288
15.
Cytotoxic effects of polychlorinated biphenyl hydroquinone metabolites in rat hepatocytes.
J Appl Toxicol
; 30(2): 163-71, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19830680
16.
The cost of cancer - A comparative analysis of the direct medical costs of cancer and other major chronic diseases in Europe.
PLoS One
; 15(11): e0241354, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175865
17.
A copper-catalyzed asymmetric oxime propargylation enables the synthesis of the gliovirin tetrahydro-1,2-oxazine core.
Chem Sci
; 11(43): 11897-11901, 2020 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34094417
18.
Intracellular sucrose communicates metabolic demand to sucrose transporters in developing pea cotyledons.
J Exp Bot
; 60(1): 71-85, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18931350
19.
Tetramethylphenylenediamine-induced hepatocyte cytotoxicity caused by lysosomal labilisation and redox cycling with oxygen activation.
Chem Biol Interact
; 172(1): 39-47, 2008 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-18221936
20.
Genetic Determinants for Leisure-Time Physical Activity.
Med Sci Sports Exerc
; 50(8): 1620-1628, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29538177