Results 171 to 180 of about 337,841 (333)

A Malignant Electrocardiogram [PDF]

open access: yesCirculation, 2020
Robert T. Short, Bei Hu, Laszlo Littmann
openaire   +3 more sources

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican 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

THE ELECTROCARDIOGRAM IN STAB WOUNDS OF THE HEART

open access: bronze, 1934
George L. Davenport, P. Markle
openalex   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

THE NORMAL ELECTROCARDIOGRAM [PDF]

open access: bronze, 1939
E. N. Chamberlain, J. D. Hay
openalex   +1 more source

Analysis of the effects of the continuous electrode paste band on precordial leads of the electrocardiogram

open access: yesArquivos Brasileiros de Cardiologia, 1999
OBJECTIVE - To determine if the application of a continuous electrode paste band on precordial leads results in alteration of the electrocardiographic tracing as compared with an adequate amount of electrode paste, and if the former condition does not ...
Petterson Carlos Henrique Purper   +3 more
doaj  

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican 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

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