Search
Results: 3262
Solve-RD
Birte Zurek, Kornelia Ellwanger, Lisenka ELM Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter AC 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, Solve-RD Consortium
Sep 15, 2021
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300...
Interview with Dora Jones - OH 327
Dora Jones
Jan 01, 0001
In her June 1984 interview with Michael Cooke, Dora Jones detailed her work with DHEC's sickle cell program. Jones discussed the misconceptions of sickle cell within South Carolina communities, the role of community groups, and...
sickle cell anemia Department of Health and Environmental Control (DHEC) Sickle cell trait Crippled Children's Division Oral History
Published by: Winthrop University
Balancing solar PV deployment and RD&D
We present a new framework for studying the socially optimal level of generating capacity and public RD&D investments for the electric power sector under decision-dependent technical change uncertainty. We construct a bottom-up...
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, Solve-RD-DITF-RND, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, Solve-RD Consortium
Sep 15, 2021
Boyd Jones Wins Lifetime Achievement Award from Campus Programming Association
Winthrop University
Jan 01, 0001
The Association for the Promotion of Campus Activities gave Jones the Lifetime Achievement Award. Jones has worked at Winthrop for more than 20 years.
Published by: Winthrop University
The RD-Connect Genome-Phenome Analysis Platform
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou, Daniel Picó-Amador, Joan Protasio, Rachel Thompson, Raul Tonda, Mònica Bayés, Gemma Bullich, Jordi Camps-Puchadas, Ida Paramonov, Jean-Rémi Trotta, Angel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros-Facer, Orion J Buske, Andrés Cañada-Pallarés, José M Fernández, Mats G Hansson, Rita Horvath, Julius OB Jacobsen, Rajaram Kaliyaperumal, Séverine Lair-Préterre, Luana Licata, Pedro Lopes, Estrella López-Martín, Deborah Mascalzoni, Lucia Monaco, Luis A Pérez-Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Riess, Peter N Robinson, David Salgado, Damian Smedley, Dylan Spalding, Peter AC 't Hoen, Ana Töpf, Irina Zaharieva, Holm Graessner, Ivo G Gut, Hanns Lochmüller, Sergi Beltran
May 20, 2022
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because...
The Lennard-Jones potential
The Lennard-Jones 12-6 potential (LJ) is arguably the most widely used pair potential in molecular simulations. In fact, it is so popular that the question is rarely asked whether it is fit for purpose. In this paper, we argue...
Boyd Jones of DSU Honored By National Association of Campus Activities
Winthrop University
Jan 01, 0001
Jones, who has worked at Winthrop for 20 years and also served 11 years at the University of Tulsa, oversees Winthrop's DiGiorgio Student Union (DSU) which provides quality on-campus programming to educate and entertain members...
Published by: Winthrop University
Avis Jones-DeWeever to Talk About Black Women in the Great Recession
Winthrop University
Jan 01, 0001
Jones-DeWeever, who will speak at 7 p.m. in Plowden Auditorium, will discuss "We've Come Too Far to Turn Back Now: Black Women in the Wake of the Great Recession." An accomplished scholar, writer and public speaker...
Published by: Winthrop University
Black Imagination Through Tara Betts and Saeed Jones
Miara Truog Sebouhian
Jan 01, 0001
This project discusses Black imagination in How We Fight for Our Lives by Saeed Jones and Storm Writes to Black Panther by Tara Betts.
Saeed Jones Black Imagination Tara Betts Black Panther African American Studies Digital Humanities Literature in English, North America, Ethnic and Cultural Minority
Published by: Ursinus College
Jones Chosen to Lead University College for Winthrop
Winthrop University
Jan 01, 0001
Winthrop University officials have tapped Gloria Godfrey Jones, chair of the Department of English, as the new dean of University College.
Published by: Winthrop University
Marshall Jones Traveling to Philippines as Part of U.S. Department of State's Education Outreach Initiative
Winthrop University
Jan 01, 0001
Education Professor Marshall Jones will travel to the Philippines as part of one of the U.S. Department of State's education outreach initiatives. Jones will be working with educators on the use of technology in teaching and...
Published by: Winthrop University
Connecting researchers at the University of Bath
Jez Cope and Geraldine Jones describe a recent series of events introducing social media to research students at the University of Bath.
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).
Ana Töpf, Angela Pyle, Helen Griffin, Leslie Matalonga, Katherine Schon, Solve-RD SNV-indel working group, Solve-RD DITF-euroNMD, Albert Sickmann, Ulrike Schara-Schmidt, Andreas Hentschel, Patrick F Chinnery, Heike Kölbel, Andreas Roos, Rita Horvath
Apr 08, 2021
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been...
Travelling lattice waves in a toy model of Lennard-Jones interaction
We consider an infinite lattice model, where particles interact with nearest neighbour (NN) and next-to-nearest neighbours (NNN); the NN and NNN springs act against each other to mimic the Lennard-Jones potential. The existence...
Travelling lattice waves in a toy model of Lennard-Jones interaction
We consider an infinite lattice model, where particles interact with nearest neighbour (NN) and next-to-nearest neighbours (NNN); the NN and NNN springs act against each other to mimic the Lennard-Jones potential. The existence...
Connecting researchers at the University of Bath
Jez Cope and Geraldine Jones describe a recent series of events introducing social media to research students at the University of Bath.
IL-33 deficiency causes persistent inflammation and severe neurodegeneration in retinal detachment.
Josy Augustine, Sofia Pavlou, Imran Ali, Kevin Harkin, Ema Ozaki, Matthew Campbell, Alan W Stitt, Heping Xu, Mei Chen
Jan 20, 2020
BACKGROUND: Interleukin-33 (IL-33) belongs to the IL-1 cytokine family and resides in the nuclei of various cell types. In the neural retina, IL-33 is predominately expressed in Müller cells although its role in health and...
Phase transitions for dilute particle systems with Lennard-Jones potential
We consider a classical dilute particle system in a large box with pair-interaction given by a Lennard-Jones-type potential. The inverse temperature is picked proportionally to the logarithm of the particle density. We identify...
Phase transitions for dilute particle systems with Lennard-Jones potential
We consider a classical dilute particle system in a large box with pair-interaction given by a Lennard-Jones-type potential. The inverse temperature is picked proportionally to the logarithm of the particle density. We identify...
Simultaneous estimation of global background synaptic inhibition and excitation from membrane potential fluctuations in layer III layer III neurons of the rat entorhinal cortex <i>in vitro</i>
It is becoming clear that the detection and integration of synaptic input and its conversion into an output signal in cortical neurones is strongly influenced by background synaptic activity or “noise”. The majority of this...
Simultaneous estimation of global background synaptic inhibition and excitation from membrane potential fluctuations in layer III layer III neurons of the rat entorhinal cortex <i>in vitro</i>
It is becoming clear that the detection and integration of synaptic input and its conversion into an output signal in cortical neurones is strongly influenced by background synaptic activity or “noise”. The majority of this...
Weight Change and the Onset of Cardiovascular Diseases
Michail Katsoulis, Bianca D Stavola, Karla Diaz-Ordaz, Manuel Gomes, Alvina Lai, Pagona Lagiou, Goya Wannamethee, Konstantinos Tsilidis, R Thomas Lumbers, Spiros Denaxas, Amitava Banerjee, Constantinos A Parisinos, Rachel Batterham, Riyaz Patel, Claudia Langenberg, Harry Hemingway
Aug 16, 2021
BACKGROUND: Cross-sectional measures of body mass index (BMI) are associated with cardiovascular disease (CVD) incidence, but less is known about whether weight change affects the risk of CVD. METHODS: We estimated the effect of...
Drying and wetting transitions of a Lennard-Jones fluid
We report a theoretical and simulation study of the drying and wetting phase transitions of a truncated Lennard-Jones fluid at a flat structureless wall. Binding potential calculations predict that the nature of these...
We report a theoretical and simulation study of the drying and wetting phase transitions of a truncated Lennard-Jones fluid at a flat structureless wall. Binding potential calculations predict that the nature of these...
|
|< |
< |
1 |