Detalhe da pesquisa
1.
Large registry-based analysis of genetic predisposition to tuberculosis identifies genetic risk factors at HLA.
Hum Mol Genet
; 32(1): 161-171, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018815
2.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
3.
Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes.
Nat Genet
; 56(3): 377-382, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182742
4.
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Atherosclerosis
; 386: 117327, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848354
5.
How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior: an Observational Follow-up Study.
Circ Genom Precis Med
; 15(2): e003459, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130028
6.
LIN28B affects gene expression at the hypothalamic-pituitary axis and serum testosterone levels.
Sci Rep
; 9(1): 18060, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31792362
7.
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?
Int J Cardiol
; 250: 139-145, 2018 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032884
8.
Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.
BBA Clin
; 3: 233-42, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26675522