The discovery of antibiotics by Alexander Fleming and the introduction of vaccination are undoubtedly among the most remarkable medical milestones in modern human history. In...

Endometrial adenocarcinoma, often referred as the endometrial cancer, is the most common kind of uterine cancer. It´s incidence is rising in last decades and each...

Cat-eye syndrome (CES) is a rare genetic disease. Individuals with normal karyotype have two normal acrocentric chromosomes 22, which are composed of a short arm...

Low coverage whole genome sequencing routinely used in noninvasive prenatal testing is able to detect not only most commonly screened chromosomal aneuploidies but also nontargeted...