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 ...

Join us to explore the latest advancements in pharmacogenomic (PGx) analysis with our newly launched Infinium microarrays and DRAGEN Array software. The Infinium Global Clinical Research Array with ...

Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises ...

Motor abnormalities in a young DnaK positive mouse. A littermate with normal, coordinated movements is also shown for comparison. Movie S2. Worsening of the conditions in two littermate adults ataxic ...

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

Wiedemann-Steiner Syndrome (WSS) is a genetic disorder associated with an array of clinical phenotypes, including advanced bone age and short stature. 11-ketotestosterone (11KT) is a member of the ...

1 Department of Surgery, Surgical Metabolic Research Laboratory, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden. 2 Department of Mathematical Sciences, Mathematical ...

Abstract: Estimation of the genome copy number variations (CNVs) measured using the high-resolution array-comparative genomic hybridization (HR-CGH) microarray is provided in the presence of large ...