Results 181 to 190 of about 992,651 (390)
E. Isselbacher+28 more
semanticscholar +1 more source
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel+2 more
wiley +1 more source
Pregnancy can cause several physiologic changes in mares, including modifications in cardiac output and heart positioning. Therefore, these changes could influence electrocardiographic parameters in various stages of pregnancy.
G. Casa+8 more
doaj +1 more source
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong+16 more
wiley +1 more source
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan+4 more
wiley +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
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
Retracted: A Comprehensive Review on Metabolic Syndrome
Cardiology Research and Practice
doaj +1 more source
Telemedicine devices in internal medicine and neurology
Introduction Monitoring of patients systems remotely with feedback send to physician and patient could be applied in many fields of medicine. Telemedicine could presumably lead to improvement of patients care and treatment both in chronic conditions and
Mateusz Domeracki, Monika Prylińska
doaj