Suchergebnisse - "Spazzolini, Carla"

PubPharm (66)

1

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

enthalten in: bioRxiv.org | 2024

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

2

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping forKCNH2-LQTS Risk Stratification

enthalten in: bioRxiv.org | 2024

von O’Neill, M. | Ng, C. | Aizawa, T. | +38

3

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

enthalten in: medRxiv : the preprint server for health sciences | 2024

von O'Neill, M. | Ng, C. | Aizawa, T. | +38

4

Effects of cohort, genotype, variant, and maternal β-blocker treatment on foetal heart rate predictors of inherited long QT syndrome

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 Kaizer, A. | Winbo, A. | Clur, S. | +16

CommentIn: Europace. 2023 Nov 2;25(11):. - PMID 37882612

5

Clinical presentation of calmodulin mutations : the International Calmodulinopathy Registry

enthalten in: European heart journal | 2023

von Crotti, L. | Spazzolini, C. | Nyegaard, M. | +52

CommentIn: Eur Heart J. 2023 Aug 12;:. - PMID 37571968

6

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

7

Left Cardiac Sympathetic Denervation for Long QT Syndrome : 50 Years' Experience Provides Guidance for Management

enthalten in: JACC. Clinical electrophysiology | 2022

von Dusi, V. | Pugliese, L. | De Ferrari, G. | +10

CommentIn: JACC Clin Electrophysiol. 2022 Mar;8(3):295-296. - PMID 35331423

8

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1 : the importance of the KCNQ1 S6 region

enthalten in: European heart journal | 2021

von Schwartz, P. | Moreno, C. | Kotta, M. | +13

CommentIn: Eur Heart J. 2021 Sep 20;:. - PMID 34542608

9

Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants

enthalten in: Circulation. Genomic and precision medicine | 2021

von Kozek, K. | Wada, Y. | Sala, L. | +27

10

Exercise Training-Induced Repolarization Abnormalities Masquerading as Congenital Long QT Syndrome

enthalten in: Circulation | 2020

von Dagradi, F. | Spazzolini, C. | Castelletti, S. | +4

CommentIn: Circulation. 2020 Dec 22;142(25):2416-2419. - PMID 33347325

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