Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A et al.
International Journal of Molecular Sciences, 2023
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
Reunert J et al.
European Journal of Human Genetics : Ejhg, 2012
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0
30402260 (PubMed )
Supplement: openhrt-2018-000915supp002.xlsx › gnomad_ENSG00000160789_2017_12_
Select a paper to view details