Suchergebnisse - "Sala, Luca"

PubPharm (4)

1

Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2

enthalten in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2023

von Giannetti, F. | Barbieri, M. | Shiti, A. | +21

2

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von O'Neill, M. | Sala, L. | Denjoy, I. | +16

3

Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation

enthalten in: Stem cell research | 2021

von Lavra, L. | Magi, F. | Ulivieri, A. | +9

4

MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome : insights in the mechanism of action of protective modifier genes

enthalten in: Cardiovascular research | 2021

von Lee, Y. | Sala, L. | Mura, M. | +11

CommentIn: Cardiovasc Res. 2021 Feb 22;117(3):637-639. - PMID 33616670

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