Detalhe da pesquisa
1.
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.
Front Genet
; 13: 798607, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368691
2.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
3.
The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss.
Int J Pediatr Otorhinolaryngol
; 127: 109653, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31472357
4.
A new acute myeloid leukemia case with STAT5B-RARA gene fusion due to 17q21.2 interstitial deletion.
Leuk Lymphoma
; 58(8): 1977-1980, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911132