Detalhe da pesquisa
1.
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Am J Hum Genet
; 109(10): 1885-1893, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103875
2.
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
Genet Med
; 24(7): 1583-1591, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499524
3.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
4.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Hum Mutat
; 42(1): 66-76, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131106
5.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
6.
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc Natl Acad Sci U S A
; 115(51): 13015-13020, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30510006
7.
Prospective evaluation of oral corticosteroid as a predictor of postoperative olfactory recovery after functional endoscopic surgery for nasal polyposis.
Eur Arch Otorhinolaryngol
; 276(12): 3359-3366, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270597
8.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522029
9.
Publication trends of shared decision making in 15 high impact medical journals: a full-text review with bibliometric analysis.
BMC Med Inform Decis Mak
; 14: 71, 2014 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106844
10.
The food additive titanium dioxide hinders intestinal production of TGF-ß and IL-10 in mice, and long-term exposure in adults or from perinatal life blocks oral tolerance to ovalbumin.
Food Chem Toxicol
; 179: 113974, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516336
11.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041148
12.
Small-Peclet-number approximation for stellar turbulent mixing zones.
Phys Rev E
; 102(3-1): 033111, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075948
13.
Retrieval of publications addressing shared decision making: an evaluation of full-text searches on medical journal websites.
JMIR Res Protoc
; 4(2): e38, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25854180
14.
Nonclassical rotational inertia of a supersolid.
Phys Rev Lett
; 99(13): 135301, 2007 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17930605