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Genetic testing in the classroom [PDF]
BMJ, 1995 EDITOR,--Recent advances in molecular genetics permit simple genetic testing; this has raised the possibility that suchtesting may be used to show genetic techniques as part of medical education. Indeed, in a biochemistry class in one medi l school first year medical students have undergone collective testing for the most common genetic defect causing ...
Audrey Tyler, David Ball, Angus Clarke
openalex +4 more sources
Genetic testing for achromatopsia
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for achromatopsia. The disease has autosomal recessive inheritance, a prevalence of 1/30000-1/50000, and is caused by mutations in ...
Abeshi Andi +5 more
doaj +5 more sources
Genetic testing for choroideremia
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for choroideremia (CHM). CHM is an inherited X-linked recessive disorder associated with variations in the CHM gene.
Abeshi Andi +7 more
doaj +5 more sources
Journal of Genetic Counseling, 2022 Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population and can lead to significant morbidity and mortality.
Lacey Smith +6 more
semanticscholar +1 more source
Current practice in diagnostic genetic testing of the epilepsies
Epileptic disorders, 2022 Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified.
Ilona Krey +15 more
semanticscholar +1 more source
Association Between Diet-Related Inflammation and COPD: Findings From NHANES III
Frontiers in Nutrition, 2021 Background and Aims: Little is known about diet-related inflammation in chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the association between COPD and dietary inflammatory index (DII) scores in adults over 40 years old ...
Haiyue Liu +17 more
doaj +1 more source
Live Birth with or without Preimplantation Genetic Testing for Aneuploidy.
New England Journal of Medicine, 2021 BACKGROUND Embryo selection with preimplantation genetic testing for aneuploidy (PGT-A) may improve pregnancy outcomes after initial embryo transfer. However, it remains uncertain whether PGT-A improves the cumulative live-birth rate as compared with ...
Junhao Yan +32 more
semanticscholar +1 more source
Genetic Testing in Neurodevelopmental Disorders
Frontiers in Pediatrics, 2021 Neurodevelopmental disorders are the most prevalent chronic medical conditions encountered in pediatric primary care. In addition to identifying appropriate descriptive diagnoses and guiding families to evidence-based treatments and supports ...
J. Savatt, S. Myers
semanticscholar +1 more source
Applied Bionics and Biomechanics, 2022 This research was aimed at exploring the diagnostic and screening effect of composite echocardiography based on the artificial intelligence (AI) segmentation algorithm on fetal congenital heart disease (CHD) during pregnancy, so as to reduce the birth ...
Guowei Han +7 more
doaj +1 more source