Detalhe da pesquisa
1.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Am J Hum Genet
; 110(5): 774-789, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054711
2.
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
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
4.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
5.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circ Genom Precis Med
; 17(1): e004285, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059363
6.
Diagnostic and Therapeutic Issues in Glioma Using Imaging Data: The Challenge of Numerical Twinning.
J Clin Med
; 12(24)2023 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137775
7.
Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL).
Thromb Res
; 229: 107-113, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437516
8.
Number of electrocardiogram leads in the diagnosis of spontaneous Brugada syndrome.
Arch Cardiovasc Dis
; 113(3): 152-158, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31787523