Introduction: people with disabilities represent around 10% of the population. The most common
of the muscular dystrophies is Duchenne, a recessive X-linked disorder that affects 1 in …

… In conclusion, genetic defects and clinical factors potentially served as clinically meaningful
measures or indicators for early identification of high- and low-risk individuals (Fig 7). The …

The clinical pictures of the disease of two Russian patients with cystic fibrosis with a rare
nonsense variant c.831G>A (p.Trp277*) are described. The first case is a patient with the …

Metastatic progression is the main cause of death in cancer patients, whereas the underlying
genomic mechanisms driving metastasis remain largely unknown. Here, we assembled …

… To this end, our custom panel includes several druggable genetic alterations linked to
tumorigenesis and disease progression. Among clinically actionable genes, we focused on …

Background Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal
syndrome including both neuropsychiatric symptoms and neurodegenerative changes. …

This study aimed to study the antimicrobial resistance, genetic characterization, and molecular
epidemiology of Ureaplasma species in order to provide clinicians sufficient data to select …

Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total, >180 causal genes have been identified and, in addition to …

… This study analyzed and discussed available published genome until April 05, 2020, for
a better understanding of the genomic variation and characterization of a novel coronavirus (…

… Advances in genetic testing and evaluation for syndromic causation of patients with ASD
have identified an etiology in up to 40%, using a three-tier clinical genetic approach described …