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.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Hum Mutat
; 43(12): 1824-1828, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819173
3.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Int J Mol Sci
; 22(13)2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281165
4.
Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.
Stem Cell Res
; 69: 103061, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905820
5.
Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes.
Biol Open
; 11(2)2022 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35195246