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1دورية أكاديمية
المؤلفون: Francis Jeanson, Spencer J. Gibson, Pinar Alper, Alexander Bernier, J. Patrick Woolley, Daniel Mietchen, Andrzej Strug, Regina Becker, Pim Kamerling, Maria del Carmen Sanchez Gonzalez, Nancy Mah, Ann Novakowski, Mark D. Wilkinson, Oussama Mohammed Benhamed, Annalisa Landi, Georg Philip Krog, Heimo Müller, Umar Riaz, Colin Veal, Petr Holub, Esther van Enckevort, Anthony J. Brookes
المصدر: Scientific Data, Vol 11, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2052-4463
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2دورية أكاديمية
المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Lisa Vermunt, Graciela Muniz-Terrera, Lea ter Meulen, Colin Veal, Kaj Blennow, Archie Campbell, Isabelle Carrié, Julien Delrieu, Karine Fauria, Gema Huesa Rodríguez, Silvia Ingala, Natalie Jenkins, José Luis Molinuevo, Pierre-Jean Ousset, David Porteous, Niels D. Prins, Alina Solomon, Brian D. Tom, Henrik Zetterberg, Marissa Zwan, Craig W. Ritchie, Philip Scheltens, Gerald Luscan, Anthony J. Brookes, Pieter Jelle Visser, for the IMI-EPAD collaborators
المصدر: Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Prescreening, Amyloid, Secondary prevention trials, Registries, Recruitment, Engagement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1758-9193
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المؤلفون: Andrew J. Davison, Jenna Nichols, Andrei J Parker, Nicola J. Royle, Nicolás M. Suárez, Colin Veal, Veryan Codd, Maciej Tomaszewski, Simon P. R. Romaine, Michael L. Wood, Diana L. Martin, Louis Flamand, Nilesh J. Samani, Adriaan A. Voors, Rita Neumann
مصطلحات موضوعية: Genetics, Transmission (mechanics), Variation (linguistics), law, Human herpesvirus 6B, Biology, law.invention
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::11bdf1a0035d3088e061c7839b2b7c31
https://doi.org/10.7554/elife.70452.sa2 -
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المؤلفون: Andrew J. Davison, Nicolás M. Suárez, Maciej Tomaszewski, Nilesh J. Samani, Colin Veal, Veryan Codd, Simon P. R. Romaine, Diana Martin, Adriaan A. Voors, Jenna Nichols, Rita Neumann, Nicola J. Royle, Michael L. Wood, Andrei J Parker, Louis Flamand
المساهمون: Cardiovascular Centre (CVC)
المصدر: eLife, 10:e70452. ELIFE SCIENCES PUBLICATIONS LTD
eLife
eLife, Vol 10 (2021)مصطلحات موضوعية: Male, QH301-705.5, Science, Herpesvirus 6, Human, Virus Integration, viruses, Human herpesvirus 6, Integration, Genomics, Genome, Viral, Biology, Excision, Genome, General Biochemistry, Genetics and Molecular Biology, Virus, Germline, 03 medical and health sciences, Humans, Latency (engineering), Biology (General), Saliva, 030304 developmental biology, Genetics, 0303 health sciences, Microbiology and Infectious Disease, Maternal Transmission, General Immunology and Microbiology, Transition (genetics), 030306 microbiology, General Neuroscience, 030302 biochemistry & molecular biology, Genetics and Genomics, General Medicine, Telomere, biology.organism_classification, Infectious Disease Transmission, Vertical, 3. Good health, Hypervariable region, DNA, Viral, Viruses, Latency, Medicine, Female, Research Article
وصف الملف: application/pdf
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المؤلفون: Nathalie Zahra, Colin Veal, Caroline Howard, Maria Casadellà Fontdevila, Roger Paredes, Anthony J. Brookes, Spencer J. Gibson, Peter Freeman, Owen Lancaster, Marc Noguera-Julian, Adrian Slater
المصدر: Gibson, S J, Zahra, N, Freeman, P J, Howard, C, Lancaster, O, Veal, C, Fontdevila, M C, Paredes, R, Noguera-Julian, M, Slater, A & Brookes, A J 2021, ' Array-based Dynamic Allele Specific Hybridization (Array-DASH): optimization-free microarray processing for multiple simultaneous genomic assays ', Analytical Biochemistry, vol. 626, 114124 . https://doi.org/10.1016/j.ab.2021.114124
Analytical Biochemistry
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Genotyping, HIV-1/genetics, Microarray, Coronavirus disease 2019 (COVID-19), Genotyping Techniques, Computer science, Biophysics, Human immunodeficiency virus (HIV), Hybridization Array, Computational biology, Genome, Viral, medicine.disease_cause, 01 natural sciences, Biochemistry, Genome, Semi-quantitative, 03 medical and health sciences, Hypericum/genetics, medicine, Humans, Molecular Biology, Allele specific, 030304 developmental biology, COVID-19/epidemiology, Oligonucleotide Array Sequence Analysis, 0303 health sciences, 010401 analytical chemistry, COVID-19, HIV, Cell Biology, 0104 chemical sciences, HIV-1, Re-sequencing, Hypericum, Genome, Plant, Software
وصف الملف: application/pdf
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المؤلفون: Lyvonne N Tume, Richard Hunt, Colin Veal
المصدر: Cardiology in the young. 29(8)
مصطلحات موضوعية: Male, medicine.medical_specialty, Transposition of Great Vessels, Pilot Projects, Audit, 030204 cardiovascular system & hematology, Hospitals, General, Intensive Care Units, Pediatric, Balloon atrial septostomy, Time-to-Treatment, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Humans, Statistical analysis, Centre for Health and Clinical Research, General hospital, Retrospective Studies, Wales, business.industry, Paediatric intensive care, Infant, Newborn, Secondary data, General Medicine, Length of Stay, Neonatal transport, paediatric, neonatal, newborn, Balloon Atrial Septostomy, specialist retrieval, transport, Arterial Switch Operation, England, Great arteries, Pediatrics, Perinatology and Child Health, Emergency medicine, Female, Cardiology and Cardiovascular Medicine, business
وصف الملف: Word
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المؤلفون: Björn Stade, Lotte Moens, Joachim Fritzsche, Sascha Sauer, Tom Brown, Xia Teng, David Stoddart, Anders Kristensen, Kalim U. Mir, Afaf H. El-Sagheer, Andre Franke, Nadine Schracke, Jonas O. Tegenfeldt, Mats Nilsson, Elin Falk-Sörqvist, Andrew John Heron, Jane Kaye, Giovanni Maglia, Nathalie Zahra, Abdou ElSharawy, Colin Veal, Rodolphe Marie, Fredrik Persson, Jonathan Mangion, Marco Mignardi, Joop M.L.M. van Helvoort, Jörg Tost, Dvir Rotem, Ivo Gut, Hagan Bayley, Achillefs N. Kapanidis, Vincent Picaud, Spencer J. Gibson, Liqin Dong, Thomas Brefort, Henrik Flyvbjerg, Markus Beier, Emile Schyns, Johannes Hohlbein, Pieter Jan Van Der Zaag, Florence Mauger, Jelle Oostmeijer, Peter Freeman, Simon Heath, Geraint Evans, Owen Lancaster, Hans Lehrach, Simone Guenther, Michael Forster, David L.V. Bauer, Rongqin Ke, Jennifer Sengenes, Steven McGinn, Jonas Nyvold Pedersen, Marta Gut, Isabelle Heath-Brun, Ludovic Le Reste, Camilla Freitag, Anthony J. Brookes, Björn Ekström, Simon Fredriksson, Mats Gullberg, Florian Mertes, James P Willcocks, Peer F. Stähler, Ruud Out, Cees Dekker
المساهمون: Chemical Biology 1, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford, Guided Development Heidelberg GmbH [Heidelberg, Germany], Damietta University, Suez University, Christian-Albrechts-Universität zu Kiel (CAU), University of Oxford, Clarendon Laboratory, Parks Road, University of Gothenburg (GU), Olink AB, Dag Hammarskjölds väg 52A, 752 37 Uppsala, Sweden (Olink AB), University of Leicester, Department of Physics [Gothenburg], Chalmers University of Technology [Göteborg], Centro Nacional de Analisis Genomico [Barcelona] (CNAG), Clarendon Laboratory [Oxford], Science for Life Laboratory [Solna], Royal Institute of Technology [Stockholm] (KTH ), Department of Chemistry [Oxford], DTU Nanotech, Danmarks Tekniske Universitet = Technical University of Denmark (DTU), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, FlexGen BV, Galileiweg 8, 2333 BD Leiden, The Netherlands (FlexGen BV), Laboratoire Sciences des Données et de la Décision (LS2D), Département Métrologie Instrumentation & Information (DM2I), Laboratoire d'Intégration des Systèmes et des Technologies (LIST (CEA)), Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Laboratoire d'Intégration des Systèmes et des Technologies (LIST (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Department of Chemistry, University of Oxford, Technologiepark Heidelberg GmbH, School of Chemistry [Southampton, UK], University of Southampton, Kavli Institute of Nanosciences [Delft] (KI-NANO), Delft University of Technology (TU Delft), Thermo Fisher Scientific Inc., Centre for Health, Law and Emerging Technologies (HeLEX), Photonis France (PHOTONIS FRANCE), Photonis Group, Philips Research Laboratories [Eindhoven], Oxford Nanopore Technologies, Department of Immunology, Genetics and Pathology [Uppsala, Sueden] (IGP), Uppsala University, European Project: 201418,EC:FP7:HEALTH,FP7-HEALTH-2007-A,READNA(2008)
المصدر: New Biotechnology, 33(3), 311-330. ELSEVIER SCIENCE BV
New Biotechnology, 33(3), 311-330
New Biotechnology 33 (2016) 3
New Biotechnology
New Biotechnology, 2016, 33 (3), pp.311-330. ⟨10.1016/j.nbt.2015.10.003⟩مصطلحات موضوعية: 0301 basic medicine, Nucleic acid quantitation, Emerging technologies, Biophysics, Bioengineering, Biology, Protein detection, Mass Spectrometry, 03 medical and health sciences, Dna genetics, [INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing, Animals, Humans, Life Science, European commission, Mutation detection, Exome, signal processing, bioinformatics, statistical analysis, Nucleic Acid analysis, classification, Molecular Biology, Biological sciences, VLAG, business.industry, General Medicine, DNA, Sequence Analysis, DNA, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Biotechnology, Engineering management, 030104 developmental biology, Biofysica, Click Chemistry, EPS, business
وصف الملف: application/pdf; application/octet-stream
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المؤلفون: Tim Beck, Anthony J. Brookes, Raymond Dalgleish, Colin Veal, Morris A. Swertz, Dhiwagaran Thangavelu, David Atlan, Owen Lancaster
المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)
المصدر: Human Mutation, 36(10), 957-964. Wiley
مصطلحات موضوعية: Genotype, Interface (computing), Data field, rare disease, Biology, Web Browser, computer.software_genre, World Wide Web, User-Computer Interface, Rare Diseases, Genetics, Humans, Genetic Predisposition to Disease, Cafe Variome, Genetics (clinical), Simple (philosophy), Information Dissemination, software, Data discovery, Databases, Bibliographic, genotype-phenotype, Data sharing, Variome, Phenotype, Search box, Matchmaker Exchange, data discovery, Web service, computer
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المؤلفون: Colin Veal, Anne-Marie Tassé, John Wilbanks, Gregory A. Rushton, Spencer J. Gibson, Adrian Thorogood, Bartha Maria Knoppers, Emily Kirby, Clara Gaff, J. Patrick Woolley, Stephanie O.M. Dyke, Anthony J. Brookes, Moran N. Cabili, Vagelis Ladas, Josh Leslie, Francis Jeanson, James G. Hazard
المصدر: npj Genomic Medicine, Vol 3, Iss 1, Pp 1-6 (2018)
NPJ Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Application programming interface, Computer science, End user, lcsh:R, lcsh:Medicine, 030105 genetics & heredity, Data science, Shared resource, Metadata, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, Data access, Documentation, Information model, Perspective, Genetics, Molecular Biology, Genetics (clinical), Software versioning