Found: 13
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The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.
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- EP: Europace, 2012, v. 14, n. 9, p. 1344, doi. 10.1093/europace/eus031
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- Article
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
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- Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 579, doi. 10.3390/jpm11060579
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- Article
Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?
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- Journal of Athletic Training (Allen Press), 2015, v. 50, n. 11, p. 1212, doi. 10.4085/1062-6050-50.12.01
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- Article
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
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- Journal of Cardiovascular Electrophysiology, 2015, v. 26, n. 10, p. 1146, doi. 10.1111/jce.12763
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- Article
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.639226
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- Article
Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family.
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- Clinical Genetics, 2024, v. 106, n. 5, p. 625, doi. 10.1111/cge.14584
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- Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
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- Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
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- Article
Evidence for genetic heterogeneity in Carvajal syndrome.
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- Cell & Tissue Research, 2012, v. 348, n. 2, p. 261, doi. 10.1007/s00441-012-1351-6
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- Article
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.773177
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- Article
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
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- Human Mutation, 2011, v. 32, n. 9, p. 995, doi. 10.1002/humu.21537
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- Article
Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.
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- EP: Europace, 2011, v. 13, n. 1, p. 130, doi. 10.1093/europace/euq331
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- Article
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
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- EP: Europace, 2010, v. 12, n. 6, p. 861, doi. 10.1093/europace/euq104
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- Article
Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
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- European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab393
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- Article