Results 121 to 130 of about 3,347,409 (388)
American Journal of Industrial Medicine, EarlyView.ABSTRACT Background Ethylene oxide (EtO) is an occupational carcinogen; however, contemporary exposure scenarios in US workplaces are not well characterized within the literature. We aim to describe EtO exposure trends in the US workplace using historical data from the Occupational Safety and Health Administration (OSHA) Chemical Exposure Health ...
Brian Christensen +3 more
wiley +1 more source
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier +7 more
wiley +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
A Case in Which Acute Spasmodic Pain in the Left Lower Extremity Was Completely Relieved by Sub-Dural Division of the Posterior Roots of Certain Spinal Nerves, All other Treatment Having Proved Useless. Death from Sudden Collapse and Cerebral Hæmorrhage on the Twelfth Dat after the Operation, at the Commencement of Apparent Convalescence [PDF]
, 1889 William H. Bennett
openalex +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
Scientific ReportsCardiac differentiation of human induced pluripotent stem cells is readily achievable, yet derivation of mature cardiomyocytes has been a recognized limitation.
Parisa K. Kargaran +8 more
doaj +1 more source