Definition: A microarray is a small, flat substrate carrying an ordered grid of microscopic probe features, each containing a known biological molecule, that is used to measure many molecular targets ...

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...

Objective: Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic ...

Although most cases of hypoparathyroidism (hypoPT) are secondary to surgery, a significant proportion (20% to 25%) are due to other etiologies, including autoimmune and genetic causes. Although most ...

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic disorder characterized by recurrent focal neuropathies typically occurring at sites of nerve entrapment or compression. It ...

Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely de ...

nDepartment of Medical Oncology, Institut Paoli Calmettes, Marseille, France oDepartment of Medical Oncology, Institut Claudius Regaud, Toulouse, France pDepartment of Biostatistics, Institut Claudius ...

Cytogenetics is the study of chromosomes, a vital tool to understanding how genetics play a role in the development and progression of certain diseases, as well as to predicting how a person will ...

McGill Genome Centre, McGill University, Montreal, Quebec H3A 0G1, Canada Department of Biomedical Engineering, McGill University, Montreal, Quebec H3A 2B4, Canada McGill Genome Centre, McGill ...

ABSTRACT: Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome ...

ABSTRACT: Genomic analysis has emphasized the enormous genetic contribution to autism spectrum disorders, with over 80% of patients having changes demonstrable by high resolution chromosome ...

dDepartment of Pathology and Neuropathology, Assistance Publique Hôpitaux de Marseille, and Institute of Neurophysiopathology, UMR CNRS 7051 Aix Marseille University, Marseille, France eSIREDO Cancer ...