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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
BACKGROUND: Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in WRN. The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical...
Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.
Werner Syndrome (WS) and Bloom Syndrome (BS) are disorders of DNA damage repair caused by biallelic disruption of the WRN or BLM DNA helicases respectively. Both are commonly associated with insulin resistant diabetes, usually...
Efficient Adaptive Designs for Clinical Trials of Interventions for COVID-19.
The COVID-19 pandemic has led to an unprecedented response in terms of clinical research activity. An important part of this research has been focused on randomized controlled clinical trials to evaluate potential therapies for...
Very Large Array Radio Study of a Sample of Nearby X-Ray and Optically Bright Early-type Galaxies
Abstract Many massive early-type galaxies host central radio sources and hot X-ray atmospheres indicating the presence of radio-mechanical active galactic nucleus (AGN) feedback....
Very Large Array Radio Study of a Sample of Nearby X-Ray and Optically Bright Early-type Galaxies
Abstract Many massive early-type galaxies host central radio sources and hot X-ray atmospheres indicating the presence of radio-mechanical active galactic nucleus (AGN) feedback....
The Meaningfulness of Knowledge for the Design of Sustainable AI
A growing number of business processes can be characterized as knowledge-intensive. The ability to speed up the necessary transfer of knowledge between individuals in business processes can lead to a huge competitive advantage...
Time Propagation and Spectroscopy of Fermionic Systems Using a Stochastic Technique.
We present a stochastic method for solving the time-dependent Schrödinger equation, generalizing a ground state full configuration interaction quantum Monte Carlo method. By performing the time integration in the complex plane...
A hidden Markov model for describing turbostratic disorder applied to carbon blacks and graphene
A mathematical framework is presented to represent turbostratic disorder in materials like carbon blacks, smectites and twisted n-layer graphene. In particular, the set of all possible disordered layers, including rotated...
A hidden Markov model for describing turbostratic disorder applied to carbon blacks and graphene
A mathematical framework is presented to represent turbostratic disorder in materials like carbon blacks, smectites and twisted n-layer graphene. In particular, the set of all possible disordered layers, including rotated...
Addressing Sustainability of Sanitation Systems
Recently, a technical draft of the international standard ISO/DIS 30500 for non-sewered sanitation systems has been developed (publication expected for 2018). Its innovative feature is the inclusion of sustainable aspects. This...
Resolution of Low-Energy States in Spin-Exchange Transition-Metal Clusters
Polynuclear transition-metal (PNTM) clusters owe their catalytic activity to numerous energetically low-lying spin states and stable oxidation states. The characterization of their electronic structure represents one of the...
Linguistic Distances in Dialectometric Intensity Estimation
Dialectometric intensity estimation as introduced in Rumpf etal. (2009) and Pickl and Rumpf (2011, 2012) is a method for the unsupervised generation of maps visualizing geolinguistic data on the level of linguistic...

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