Detalhe da pesquisa
1.
Herpes simplex virus alters Alzheimer's disease biomarkers - A hypothesis paper.
Alzheimers Dement
; 19(5): 2117-2134, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36396609
2.
The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer's disease.
Mol Psychiatry
; 26(2): 614-628, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30899092
3.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
4.
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
Hum Genet
; 133(1): 29-39, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23982343
5.
SARS-CoV-2 Test-to-Stay in Daycare.
Pediatrics
; 153(5)2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38596855
6.
A mutation screen in patients with Kabuki syndrome.
Hum Genet
; 130(6): 715-24, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21607748
7.
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.
Transl Psychiatry
; 9(1): 55, 2019 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30705288
8.
No association of the variant rs11887120 in DNMT3A with cognitive decline in individuals with mild cognitive impairment.
Epigenomics
; 8(5): 593-8, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27092400
9.
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest
; 125(9): 3585-99, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26280580
10.
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Eur J Hum Genet
; 20(6): 639-44, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22234151