Results 141 to 150 of about 457,035 (358)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Post-Pericardiotomy Syndrome Disguised as Fever of Unknown Origin [PDF]
, 2017 Introduction: Post -Pericardiotomy syndrome (PPS) is a clinical diagnosis characterized by fever, pericardial or pleural effusions, and a pericardial friction rub occurring over several days after cardiac surgery.
Arif, MD, Zulfiqar +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Direct EIT Reconstructions of Complex Admittivities on a Chest-Shaped Domain in 2-D [PDF]
, 2013 Electrical impedance tomography (EIT) is a medical imaging technique in which current is applied on electrodes on the surface of the body, the resulting voltage is measured, and an inverse problem is solved to recover the conductivity and/or permittivity
Hamilton, Sarah J., Mueller, Jennifer L.
core +1 more source
Sublimation of the Endohedral Fullerene Er3N@C80
, 2010 The heat of sublimation of the endohedral metallofullerene Er3N@C80 was measured via Knudsen effusion mass spectrometry. The large molecule consists of a C80 fullerene cage which is stabilized by comprising a complex of three erbium atoms bounded to a ...
Abrefah +22 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Stochastic Efficiency for Effusion as a Thermal Engine
, 2014 The stochastic efficiency of effusion as a thermal engine is investigated within the framework of stochastic thermodynamics. Explicit results are obtained for the probability distribution of the efficiency both at finite times and in the asymptotic ...
Broeck, Christian Van Den +2 more
core +1 more source
Clinical Practice Guideline: Otitis Media with Effusion (Update)
Otolaryngology Head & Neck Surgery, 2016 R. Rosenfeld +14 more
semanticscholar +1 more source