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Results: 89
HGVA
Javier Lopez, Jacobo Coll, Matthias Haimel, Swaathi Kandasamy, Joaquin Tarraga, Pedro Furio-Tari, Wasim Bari, Marta Bleda, Antonio Rueda, Stefan Gräf, Augusto Rendon, Joaquin Dopazo, Ignacio Medina
Aug 18, 2017
High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying...
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Cornelis A Albers, Ana Cvejic, Rémi Favier, Evelien E Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan, Ross NW Kettleborough, Graham Kiddle, Myrto Kostadima, Randy J Read, Botond Sipos, Suthesh Sivapalaratnam, Peter A Smethurst, Jonathan Stephens, Katrin Voss, Alan Nurden, Augusto Rendon, Paquita Nurden, Willem H Ouwehand
Aug 20, 2020
Gray platelet syndrome (GPS) is a predominantly recessive platelet disorder that is characterized by mild thrombocytopenia with large platelets and a paucity of α-granules; these abnormalities cause mostly moderate but in rare...
Adult Aged Animals Animals Genetically Modified Base Sequence Blood Platelets Cytoplasmic Granules Embryo Nonmammalian Female Gene Expression Regulation Developmental Gray Platelet Syndrome Humans Male Middle Aged Molecular Sequence Data Nerve Tissue Proteins Pedigree Secretory Vesicles Sequence Analysis DNA Sequence Homology Nucleic Acid Young Adult Zebrafish
Engaging development and religion
Religion is no longer a neglected dimension in development studies. Not only has the literature on religion and development blossomed over the last decade, but partnerships between international development institutions and...
Transparent, Hydrophobic Fluorinated Ethylene Propylene Offers Rapid, Robust, and Irreversible Passive Adsorption of Diagnostic Antibodies for Sensitive Optical Biosensing
Current literature data is scarce and somehow contradictory in respect to the suitability of "nonstick" fluoropolymer surfaces for immobilization of biomolecules. We have previously shown empirically that transparent Teflon...
Transparent, Hydrophobic Fluorinated Ethylene Propylene Offers Rapid, Robust, and Irreversible Passive Adsorption of Diagnostic Antibodies for Sensitive Optical Biosensing
Current literature data is scarce and somehow contradictory in respect to the suitability of "nonstick" fluoropolymer surfaces for immobilization of biomolecules. We have previously shown empirically that transparent Teflon...
Engaging development and religion
Religion is no longer a neglected dimension in development studies. Not only has the literature on religion and development blossomed over the last decade, but partnerships between international development institutions and...
A Descriptive 3D City Information Model Built From Infrastructure BIM
This study developed a descriptive 3D city information model (CIM) using only infrastructural building modeling tools to create maps and analyzed the model according to needs identified in interviews with public-sector actors...
Published by: IGI Global Scientific Publishing
From Sugarcane To Ethanol
Jose Augusto Martini Costa
Feb 27, 2020
Brazil is a biofuel superpower and a pioneer in the large-scale production and use of sugarcane ethanol. The country has plans to replace 10 percent of the world's fossil fuels by 2025 with biofuels (Novo et al., 2010). Brazil...
Political Economy Political Science Environmental Political Economy Biofuel Brazil Historical Institutionalism Sugarcane
Published by: Memorial University of Newfoundland
From Sugarcane To Ethanol
Jose Augusto Martini Costa
Feb 27, 2020
Brazil is a biofuel superpower and a pioneer in the large-scale production and use of sugarcane ethanol. The country has plans to replace 10 percent of the world's fossil fuels by 2025 with biofuels (Novo et al., 2010). Brazil...
Political Economy; Political Science; Environmental Political Economy Biofuel; Brazil; Historical Institutionalism; Sugarcane
Published by: Memorial University of Newfoundland
New perspectives in eosinophilic granulomatosis with polyangiitis (EGPA)
Chiara Marvisi, Renato Alberto Sinico, Carlo Salvarani, David Jayne, Domenico Prisco, Benjamin Terrier, Giacomo Emmi, Augusto Vaglio, European EGPA Study Group
May 27, 2020
The European Eosinophilic Granulomatosis with Polyangiitis (EGPA) study group first gathered in Firenze in December 2018. The discussion was centred around the clinical and therapeutic needs in EGPA which still remain unmet....
Chromosomal painting in Charadrius collaris Vieillot, 1818 and Vanellus chilensis Molina, 1782 and an analysis of chromosomal signatures in Charadriiformes.
Melquizedec Luiz Silva Pinheiro, Cleusa Yoshiko Nagamachi, Talita Fernanda Augusto Ribas, Cristovam Guerreiro Diniz, Patricia Caroline Mary O Brien, Malcolm Andrew Ferguson-Smith, Fengtang Yang, Julio Cesar Pieczarka
Sep 10, 2022
Charadriiformes represent one of the largest orders of birds; members of this order are diverse in morphology, behavior and reproduction, making them an excellent model for studying evolution. It is accepted that the avian...
Data Mining of MR Technical Parameters
Adriana Murraças, Paula Martins, Carlos Ferreira, Tiago Godinho, Augusto Ferreira da Silva
Jan 01, 2021
Exposure to radiofrequency (RF) energy during a magnetic resonance imaging exam is a safety concern related to biological thermal effects. Estimation of the specific absorption rate (SAR) is done by manufacturer scanner...
Published by: IGI Global Scientific Publishing
Development and validation of a universal blood donor genotyping platform
Nicholas S Gleadall, Barbera Veldhuisen, Jeremy Gollub, Adam S Butterworth, John Ord, Christopher J Penkett, Tiffany C Timmer, Carolin M Sauer, Nieke van der Bolt, Colin Brown, Kim Brugger, Alexander T Dilthey, Daniel Duarte, Shane Grimsley, Katja van den Hurk, John M Jongerius, Jessie Luken, Karyn Megy, Gail Miflin, Christopher S Nelson, Femmeke J Prinsze, Jennifer Sambrook, Ilenia Simeoni, Michael Sweeting, Nicole Thornton, Sara Trompeter, Salih Tuna, Ram Varma, Matthew R Walker, NIHR BioResource, John Danesh, David J Roberts, Willem H Ouwehand, Kathleen E Stirrups, Augusto Rendon, Connie M Westhoff, Emanuele Di Angelantonio, C Ellen van der Schoot, William J Astle, Nicholas A Watkins, William J Lane
Jun 17, 2020
Analysis of multiple chromosomal rearrangements in the genome of Willisornis vidua using BAC-FISH and chromosome painting on a supposed conserved karyotype.
Talita Fernanda Augusto Ribas, Julio Cesar Pieczarka, Darren K Griffin, Lucas G Kiazim, Cleusa Yoshiko Nagamachi, Patricia Caroline Mary O Brien, Malcolm Andrew Ferguson-Smith, Fengtang Yang, Alexandre Aleixo, Rebecca E O'Connor
May 10, 2021
BACKGROUND: Thamnophilidae birds are the result of a monophyletic radiation of insectivorous Passeriformes. They are a diverse group of 225 species and 45 genera and occur in lowlands and lower montane forests of Neotropics....
NDUFV1 mutations in complex I deficiency
Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J Robinson, Vaneisse Monteiro, Mara Lucia SF Santos, Ricardo Lehtonen R Souza, Cristiane Benincá
Jan 07, 2022
Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI...
Enhancing landslide predictability
Cassiano Antonio Bortolozo, Tatiana Sussel Gonçalves Mendes, Harideva Marturano Egas, Daniel Metodiev, Maiconn Vinicius de Moraes, Marcio Roberto Magalhães de Andrade, Tristan Pryer, Ben Ashby, Mariana Ferreira Benessiuti Motta, Silvio Jorge Coelho Simões, Luana Albertani Pampuch, Rodolfo Moreda Mendes, Marcio Augusto Ernesto de Moraes
Dec 01, 2023
Every year, Brazil grapples with the destructive impact of landslides, typically during the summer season. The National Centre for Monitoring and Alerts of Natural Disasters (Cemaden) places significant emphasis on studying...
Potency of Human Cardiosphere-Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability.
Emma Harvey, Huajun Zhang, Pilar Sepúlveda, Sara P Garcia, Dominic Sweeney, Fizzah A Choudry, Delia Castellano, George N Thomas, Hassan Kattach, Romina Petersen, Derek J Blake, David P Taggart, Mattia Frontini, Suzanne M Watt, Enca Martin-Rendon
Oct 25, 2018
Cardiosphere-derived cell (CDC) infusion into damaged myocardium has shown some reparative effect; this could be improved by better selection of patients and cell subtype. CDCs isolated from patients with ischemic heart disease...
Objectively Measured Physical Activity Reduces the Risk of Mortality among Brazilian Older Adults.
Renata M Bielemann, Andrea Z LaCroix, Andréa D Bertoldi, Elaine Tomasi, Flávio F Demarco, Maria Cristina Gonzalez, Pedro Augusto Crespo da Silva, Andrea Wendt, Inácio Crochemore Mohnsam da Silva, Soren Brage, Ulf Ekelund, Michael Pratt
Jan 27, 2021
OBJECTIVES: Use of objectively measured physical activity (PA) in older adults to assess relationship between PA and risk of all-causes mortality is scarce. This study evaluated the associations of PA based on accelerometry and...
Analysis of multiple chromosomal rearrangements in the genome of Willisornis vidua using BAC-FISH and chromosome painting on a supposed conserved karyotype
Talita Fernanda Augusto Ribas, Julio Cesar Pieczarka, Darren K. Griffin, Lucas G. Kiazim, Cleusa Yoshiko Nagamachi, Patricia Caroline Mary O´Brien, Malcolm Andrew Ferguson-Smith, Fengtang Yang, Alexandre Aleixo, Rebecca E. O’Connor
Mar 03, 2021
Abstract: Background: Thamnophilidae birds are the result of a monophyletic radiation of insectivorous Passeriformes. They are a diverse group of 225 species and 45 genera and occur in lowlands and lower montane forests of...
Physical Education Classes, Physical Activity, and Sedentary Behavior in Children
Diego Augusto Santos Silva, Jean-Philippe Chaput, Peter T Katzmarzyk, Mikael Fogelholm, Gang Hu, Carol Maher, Timothy Olds, Vincent Onywera, Olga L Sarmiento, Martyn Standage, Catrine Tudor-Locke, Mark S Tremblay
May 01, 2018
Purpose This study aimed to examine the associations between participation frequency in physical education (PE) classes and objective measures of physical activity (PA) and sedentary behavior (SB) in children from 12...
Germline selection shapes human mitochondrial DNA diversity.
Wei Wei, Salih Tuna, Michael J Keogh, Katherine R Smith, Timothy J Aitman, Phil L Beales, David L Bennett, Daniel P Gale, Maria AK Bitner-Glindzicz, Graeme C Black, Paul Brennan, Perry Elliott, Frances A Flinter, R Andres Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R Maher, Hugh S Markus, Nicholas W Morrell, William G Newman, Irene Roberts, John A Sayer, Kenneth GC Smith, Jenny C Taylor, Hugh Watkins, Andrew R Webster, Andrew OM Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 000 Genomes Project–Rare Diseases Pilot 100, Sofie Ashford, Christopher J Penkett, Kathleen E Stirrups, Augusto Rendon, Willem H Ouwehand, John R Bradley, F Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F Chinnery
Jun 03, 2019
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