Results 11 to 20 of about 17,080,653 (424)
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
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
Guidelines for Genetic Testing and Management of Alport Syndrome.
American Society of Nephrology. Clinical Journal, 2021 Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing for
J. Savige +43 more
semanticscholar +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
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Nephrology, Dialysis and Transplantation, 2021 The overall diagnostic yield of massively parallel sequencing–based tests in patients with chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases.
N. Knoers +10 more
semanticscholar +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
Liquid State Genetic Programming [PDF]
In: Beliczynski, B., Dzielinski, A., Iwanowski, M., Ribeiro, B.
(eds) Adaptive and Natural Computing Algorithms. ICANNGA 2007. Lecture Notes
in Computer Science, vol 4431. Springer, 2023 A new Genetic Programming variant called Liquid State Genetic Programming (LSGP) is proposed in this paper. LSGP is a hybrid method combining a dynamic memory for storing the inputs (the liquid) and a Genetic Programming technique used for the problem solving part.
arxiv +1 more source
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
Circulation Genomic and Precision Medicine, 2020 Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia.
K. Musunuru +8 more
semanticscholar +1 more source