Results 11 to 20 of about 1,824,368 (348)
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
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 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
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
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
Frontiers in Oncology, 2023 The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes.
Mara Colombo +8 more
doaj +1 more source
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
Molecular Genetics & Genomic Medicine, 2021 Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis.
Leonardo Gatticchi +9 more
doaj +1 more source
Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market [PDF]
, 2012 Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be ...
Harris, A., Kelly, S., Wyatt, S.
core +8 more sources
npj Schizophrenia, 2021 Genome-wide association studies (GWAS) have accelerated the discovery of numerous genetic variants associated with schizophrenia. However, most risk variants show a small effect size (odds ratio (OR)
Zhongju Wang +12 more
doaj +1 more source