Results 211 to 220 of about 9,233 (239)

Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve <i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification. [PDF]

Circulation
O'Neill MJ, Ng CA, Aizawa T, Sala L, Bains S, Winbo A, Ullah R, Shen Q, Tan CY, Kozek K, Vanags LR, Mitchell DW, Shen A, Wada Y, Kashiwa A, Crotti L, Dagradi F, Musu G, Spazzolini C, Neves R, Bos JM, Giudicessi JR, Bledsoe X, Gamazon ER, Lancaster MC, Glazer AM, Knollmann BC, Roden DM, Weile J, Roth F, Salem JE, Earle N, Stiles R, Agee T, Johnson CN, Horie M, Skinner JR, Ackerman MJ, Schwartz PJ, Ohno S, Vandenberg JI, Kroncke BM.   +41 more
europepmc   +1 more source

Additional gel electrophoresis image for KCNH2 polymorphisms.

Muhammad Irfan Abdul Jalal (12696668), Muhammad-Redha Abdullah-Zawawi (14067930), Nurfadhlina Musa (5378888), Basyirah Ghazali (21246757), Zalina Zahari (5378891), Nasir Mohamad (5378885)   +5 more
openalex   +1 more source

Long QT Interval Syndrome and Female Sex-Review and Case Report. [PDF]

Reports (MDPI)
Maričić L, Sušić L, Mihić D, Šego N.   +3 more
europepmc   +1 more source

Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches. [PDF]

Int J Emerg Med
Khorgami M, Naderi F, Kalayinia S.
europepmc   +1 more source

Postpartum QT Prolongation in a Long QT Syndrome Type 1 Patient. [PDF]

Ann Noninvasive Electrocardiol
Wiedenmann LC, Ehrlich JR, Goldenberg I.
europepmc   +1 more source

Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study. [PDF]

Int J Mol Sci
d'Apolito M, Santoro F, Ranaldi A, Cannito S, Santacroce R, Ragnatela I, Margaglione A, D'Andrea G, Brunetti ND, Margaglione M.   +9 more
europepmc   +1 more source

Correction to: Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology. [PDF]

Biol Methods Protoc
europepmc   +1 more source

Interpreting the actionable clinical role of rare variants associated with short QT syndrome. [PDF]

Hum Genet
Martínez-Barrios E, Greco A, Cruzalegui J, Cesar S, Díez-Escuté N, Cerralbo P, Chipa F, Zschaeck I, Slanovic L, Mangas A, Toro R, Brugada J, Sarquella-Brugada G, Campuzano O.   +13 more
europepmc   +1 more source

Mammalian epigenomic conservation of promoters and enhancers in the heart associates with trait-associated variation and impacts cardiomyocyte phenotypes

Frost S, Fernandez-Aroca D, Parey E, Rodriguez-Gonzalez A, Pavon-Heredia D, Villar D.   +5 more
europepmc   +1 more source