Detalhe da pesquisa
1.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
2.
Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents.
J Genet Couns
; 30(3): 710-719, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179831