Detalhe da pesquisa
1.
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
Genet Med
; 21(8): 1832-1841, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675029
2.
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Clin Genet
; 96(1): 85-90, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044419
3.
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.
J Neurol
; 267(9): 2533-2545, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367296