The performance of the LHCb Muon system and its stability across the full 2010 data taking
with LHC running at√ s= 7 TeV energy is studied. The optimization of the detector setting …

The complex network of specialized cells and molecules in the immune system has evolved
to defend against pathogens, but inadvertent immune system attacks on "self" result in …

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

We report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians;
22% are absent from previous sequencing-based compilations and are enriched for …

Genetic variation within the male-specific portion of the Y chromosome (MSY) can clarify the
origins of contemporary populations, but previous studies were hampered by partial genetic …

… We used the summarizeOverlaps function from the GenomicAlignments [40] R package to
count reads that are paired with mates from the opposite strands (singleEnd = FALSE). We …

Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

… ,4 Riccardo Berutti,8 Bilgen Ekim Ustünel ,1… Graf at HMGU and R. Nielsen at SDU for
help with the sequencing. The graphical abstract was created with BioRender.com. …

Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism,
can be detected through newborn screening for hyperphenylalaninemia (HPA). Most …

Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic
movement disorder defined by involuntary twisting postures. Although frequently transmitted as …