Detalhe da pesquisa
1.
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Hum Mol Genet
; 2024 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38538566
2.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36251260
3.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 24(10): 2112-2122, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36053285
4.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 26(2): 101024, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38085215
5.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circ Genom Precis Med
; : e003978, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38623759
6.
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.
Circ Genom Precis Med
; 16(4): 328-336, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37199186