Detalhe da pesquisa
1.
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.
Clin Case Rep
; 10(10): e6308, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36237940
2.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth Defects Res
; 114(12): 674-681, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751431
3.
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.
Mol Genet Genomic Med
; 9(9): e1753, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318601