Detalhe da pesquisa
1.
Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.
Clin Genet
; 103(2): 247-251, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36353970
2.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain
; 145(3): 1029-1037, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983064
3.
Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads.
Hum Mol Genet
; 24(23): 6687-98, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362254
4.
Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
Eur J Hum Genet
; 30(10): 1187-1190, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277653