Detalhe da pesquisa
1.
A human importin-ß-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Am J Hum Genet
; 108(6): 1115-1125, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010605
2.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Circulation
; 142(10): 1021-1024, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897753
3.
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC).
Stem Cell Res
; 69: 103080, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36966641
4.
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.
Front Genet
; 14: 1251675, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37719708
5.
Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.
Cardiovasc Res
; 118(1): 65-83, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33739371