Rapid genome sequencing identifies a greater number of unique diagnoses in infants with congenital heart disease compared with chromosomal microarray analyses. Rapid genome sequencing (rGS) identifies ...
Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.
Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
Aging-related cardiovascular diseases are a rapidly increasing problem worldwide. Cardiac aging demonstrates progressive decline of diastolic dysfunction of ventricle and increase in ventricular and ...
Further chromosomal microarray analysis (CMA) was conducted, revealing a pathogenic copy number variation (CNV)—specifically, a deletion at 1q25.3–q32.1 (Chr1:180300001-207100000,hg38) with a ...
A metadata commons to store research software metadata - arash77/research-software-ecosystem-content ...
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