Results 61 to 70 of about 23,188 (240)
Adverse reactions of amiodarone [PDF]
Adverse drug reaction is defined by the World Health Organization as any response to a drug that is noxious and unintended and occurs at a dose normally used in man.
Calvosa, Leonardo +5 more
core +1 more source
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia [PDF]
Primary cardiac arrhythmias are often caused by defects, predominantly in the genes responsible for generation of cardiac electrical potential, i.e., cardiac rhythm generation.
Al-Aama, J. +4 more
core +1 more source
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas +7 more
wiley +1 more source
Timothy syndrome (TS) is a rare genetic disorder characterized by an abnormally prolonged cardiac “repolarization” time (long QT interval). This predisposes individuals to arrhythmias, cardiac arrest and sudden death.
Bhupendra K. Sihag, Vikas Agrawal
doaj +1 more source
Determining the Health Problems of Alaska Military Youth Academy Participants [PDF]
Alaska Military Youth Academy is an accredited residential high school program that utilizes a quasi-military approach to teach life skills to at-risk youth.
Doughty, Mark W.
core
Shortening of the Short Refractory Periods in Short QT Syndrome. [PDF]
BACKGROUND: Diagnosis of short QT syndrome (SQTS) remains difficult in case of borderline QT values as often found in normal populations. Whether some shortening of refractory periods (RP) may help in differentiating SQTS from normal subjects is unknown.
Cardin, C +10 more
core +3 more sources
Acquired long QT syndrome: as risky as congenital long QT syndrome? [PDF]
This editorial refers to ‘Role of implantable cardioverter defibrillator therapy in patients with acquired long QT syndrome: A long-term follow-up’ by G. Monnig et al ., on page 396 Long QT syndrome (LQTS) describes a group of disorders characterized by QT interval prolongation secondary to delayed cardiac repolarization that may either be genetic ...
Leonie C H, Wong, Elijah R, Behr
openaire +2 more sources
ABSTRACT Hereditary angioedema (HAE) with C1 inhibitor deficiency is a rare disease characterized by unpredictable episodes of tissue swelling (angioedema), which, in most cases, occur first under the age of 18 years, and entail a significant burden of disease not only for the patients but also for their families.
Henriette Farkas +128 more
wiley +1 more source
Site-Directed Mutagenesis and Site-Specific Binding Analysis of Calmodulin (CaM) [PDF]
Calcium signaling is a major regulatory system in cells and a crucial part of cell biology. An important element in the decoding of intracellular calcium concentration into downstream processes is the ubiquitous and highly conserved calcium binding ...
Dokic, Yelena
core +1 more source

