Background Molecular diagnostics are considered the most promising route to achievement
of rapid, universal drug susceptibility testing for Mycobacterium tuberculosis complex (MTBC…

Background Perrault syndrome is a rare recessive and genetically heterogeneous disorder
characterized by sensorineural hearing loss in males and females and gonadal dysgenesis …

YY1 mutations cause Gabriele‐de Vries syndrome, a recently described condition involving
cognitive impairment, facial dysmorphism and intrauterine growth restriction. Movement …

Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded
fiber wrapped around a histone octamer. This organization supports cellular …

Kingella kingae, producing the cytotoxic RTX protein, is a causative agent of serious infections
in humans such as bacteremia, endocarditis and osteoarticular infection, especially in …

Whole genome sequencing (WGS) enables high resolution typing of bacteria up to the single
nucleotide polymorphism (SNP) level. WGS is used in clinical microbiology laboratories for …

Background Recent methodological advances allow better examination of speciation and
extinction processes and patterns. A major open question is the origin of large discrepancies …

Bi‐allelic loss‐of‐function variants of OTOA are a well‐known cause of moderate‐to‐severe
hearing loss. Whereas non‐allelic homologous recombination‐mediated deletions of the …

The short and long term effects of polyploidization on the evolutionary fate of lineages is still
unclear despite much interest. First recognized in land plants, it has become clear that …

Arthrogryposis describes the presence of multiple joint‐contractures. Clinical severity of this
phenotype is variable, and more than 400 causative genes have been proposed. Among …