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Results: 458
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Danny E Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M Martin, Evan E Eichler, Fuki M Hisama, Junko Oshima
May 11, 2022
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...
Monographs of the RIMR. Vol. 13, 1920
The Rockefeller University
Jan 01, 0001
The Early Stages of Tabanidae (Horse-flies) by Werner Marchand
Published by: The Rockefeller Institute for Medical Research
Big Data Analytics Capability and Governmental Performance
Although governments are investing heavily in big data analytics, reports show mixed results in terms of performance. Whilst big data analytics capability provided a valuable lens in business and seems useful for the public...
Published by: IGI Global Scientific Publishing
The global dissemination of hospital clones of Enterococcus faecium.
Sebastiaan J van Hal, Rob JL Willems, Theodore Gouliouris, Susan A Ballard, Teresa M Coque, Anette M Hammerum, Kristin Hegstad, Hendrik T Westh, Benjamin P Howden, Surbhi Malhotra-Kumar, Guido Werner, Katsunori Yanagihara, Ashlee M Earl, Katherine E Raven, Jukka Corander, Rory Bowden, Enterococcal Group
Mar 30, 2021
BACKGROUND: The hospital-adapted A1 group of Enterococcus faecium remains an organism of significant concern in the context of drug-resistant hospital-associated infections. How this pathogen evolves and disseminates remains...
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...
Factors Affecting the Adoption of Self-Service Technology (SST) in the Public Sector
In the Netherlands, housing corporations are increasingly adopting self-service technologies (SSTs) to support affairs their tenants need to arrange. The purpose of the study is to examine the customers' motivations of using...
Published by: IGI Global Scientific Publishing
Metaverse!
This study aimed to synthesize the literature on Metaverse to highlight its current research, opportunities, and applications in e-healthcare and education to reduce inequalities and for delivering fair and equal opportunities...
Published by: IGI Global Scientific Publishing
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...
Carbon blacks hidden Markov model Scattering cross sections Turbostratic disorder /dk/atira/pure/subjectarea/asjc/1300/1315 name=Structural Biology /dk/atira/pure/subjectarea/asjc/1300/1303 name=Biochemistry /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/3100/3104 name=Condensed Matter Physics /dk/atira/pure/subjectarea/asjc/1600/1606 name=Physical and Theoretical Chemistry /dk/atira/pure/subjectarea/asjc/1600/1604 name=Inorganic Chemistry
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...
Carbon blacks hidden Markov model Scattering cross sections Turbostratic disorder /dk/atira/pure/subjectarea/asjc/1300/1315 name=Structural Biology /dk/atira/pure/subjectarea/asjc/1300/1303 name=Biochemistry /dk/atira/pure/subjectarea/asjc/2500/2500 name=General Materials Science /dk/atira/pure/subjectarea/asjc/3100/3104 name=Condensed Matter Physics /dk/atira/pure/subjectarea/asjc/1600/1606 name=Physical and Theoretical Chemistry /dk/atira/pure/subjectarea/asjc/1600/1604 name=Inorganic Chemistry
Studies on the Chemistry of Human Hemoglobin
Guido Guidotti
Jan 01, 0001
This dissertation is concerned with the confirmation of adult human hemoglobin in solution. It is now well established that one form of the hemoglobin molecule is composed of four polypeptide chains, two ? chains, and two ?...
Published by: Rockefeller University
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...
MR fingerprinting with simultaneous B1 estimation.
Human dendritic cells activate resting natural killer (NK) cells and are recognized via the NKp30 receptor by activated NK cells
During the innate response to many inflammatory and infectious stimuli, dendritic cells (DCs) undergo a differentiation process termed maturation. Mature DCs activate antigen-specific naive T cells. Here we show that both...
antigen expression dendritic cell cytokine release interleukin 2 Immunoregulation Signal Transduction
Published by: Rockefeller University
Disclosure and donor-conceived children
S Golombok
Sep 11, 2017
Sir,
In the March 2017 issue of Human Reproduction, Guido Pennings published an opinion piece arguing that there is little empirical evidence in support of the disclosure of donor conception to children (Pennings, 2017). He...
Travel, Expertise and Readers
Guido G Beduschi
Apr 14, 2021
This article analyses Francesco Ottieri’s historical work, his authority as historian, and his book’s eighteenth-century readers. During the seventeenth century, books concerning recent events and early newspapers informed an...
Travel, Expertise and Readers
Guido G. Beduschi
Aug 11, 2021
Abstract: This article analyses Francesco Ottieri's historical work, his authority as historian, and his book's eighteenth‐century readers. During the seventeenth century, books concerning recent events and early newspapers...
Published by: History
Hareth Al-Janabi, Job Van Exel, Werner Brouwer, Caroline Trotter, Linda Glennie, Laurie Hannigan, Joanna Coast
Sep 21, 2015
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