Detalhe da pesquisa
1.
Selective IL-27 production by intestinal regulatory T cells permits gut-specific regulation of TH17 cell immunity.
Nat Immunol
; 24(12): 2108-2120, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932457
2.
Small intestine and colon tissue-resident memory CD8+ T cells exhibit molecular heterogeneity and differential dependence on Eomes.
Immunity
; 56(1): 207-223.e8, 2023 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580919
3.
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Am J Hum Genet
; 111(1): 119-132, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141607
4.
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Am J Hum Genet
; 110(1): 92-104, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36563679
5.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
6.
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Nature
; 586(7831): 757-762, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33057194
7.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
8.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580113
9.
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
Am J Hum Genet
; 108(4): 608-619, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33740458
10.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
11.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
12.
Left Atrial Function in Patients with Titin Cardiomyopathy.
J Card Fail
; 30(1): 51-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230314
13.
Learning nonnative speech sounds changes local encoding in the adult human cortex.
Proc Natl Acad Sci U S A
; 118(36)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34475209
14.
[Analysis of contents of different kinds of fatty acids in carotid atherosclerotic plaques].
Zhonghua Yi Xue Za Zhi
; 104(5): 325-331, 2024 Jan 30.
Artigo
em Zh
| MEDLINE | ID: mdl-38281799
15.
[Epidemiological characteristics of human respiratory syncytial virus (HRSV) among acute respiratory infection (ARI) cases in 16 provinces of China from 2009 to 2023].
Zhonghua Yu Fang Yi Xue Za Zhi
; 58: 1-7, 2024 Feb 23.
Artigo
em Zh
| MEDLINE | ID: mdl-38403282
16.
[Incidence and case fatality rates of cardiovascular diseases in urban and rural community-dwelling populations in eastern, central and western regions of China].
Zhonghua Xin Xue Guan Bing Za Zhi
; 52(2): 191-198, 2024 Feb 24.
Artigo
em Zh
| MEDLINE | ID: mdl-38326072
17.
Autism spectrum disorder and brain volume link through a set of mTOR-related genes.
J Child Psychol Psychiatry
; 64(7): 1007-1014, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922714
18.
Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas".
J Genet Couns
; 32(2): 387-396, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36366912
19.
An E280K Missense Variant in KCND3/Kv4.3-Case Report and Functional Characterization.
Int J Mol Sci
; 24(13)2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446101
20.
[Application of two kinds of electrophysiological monitoring techniques for the prediction of facial nerve outcomes after vestibular Schwannoma surgery].
Zhonghua Yi Xue Za Zhi
; 103(9): 677-683, 2023 Mar 07.
Artigo
em Zh
| MEDLINE | ID: mdl-36858368