Results 171 to 180 of about 870,100 (377)
Report of a Case of Pyaemia from Valvular Disease of the Heart: Death [PDF]
Samuel Wilks +2 more
openalex +1 more source
Preoperative prediction of significant coronary artery disease in patients with valvular heart disease. [PDF]
, 1982 David R. Ramsdale +5 more
openalex +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Reduced Pressure Ionization Enhances Native Mass Spectrometry of Proteins and Protein Complexes
Angewandte Chemie, EarlyView.Reduced pressure for electrospray ionization of native proteins narrows peak widths and increases signal. This straightforward add‐on to existing native MS platforms improves performance in challenging buffers and enables detection of protein interactions at concentrations as low as 50 nM, without significantly disrupting structure as confirmed by ...
Jake P. Violi +2 more
wiley +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
Guidelines on the management of valvular heart disease (version 2012).
European Heart Journal, 2012 A. Vahanian +23 more
semanticscholar +1 more source
European Heart Journal-Cardiovascular Imaging, 2022 P. Lancellotti +16 more
semanticscholar +1 more source