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1دورية أكاديمية
المؤلفون: Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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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
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000180Test; https://doaj.org/toc/2666-2477Test
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3دورية أكاديمية
المؤلفون: Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100246- (2023)
مصطلحات موضوعية: genome analysis, exome analysis, data sharing, data visualization, federated infrastructures, remote data access, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666979X22002099Test; https://doaj.org/toc/2666-979XTest
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4دورية أكاديمية
المؤلفون: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Rare diseases, Systematic literature reviews, Treatment knowledge-base, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01493-7Test; https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
المصدر: iScience, Vol 24, Iss 1, Pp 101948- (2021)
مصطلحات موضوعية: Biological Sciences, Neuroscience, Molecular Neuroscience, Clinical Neuroscience, Systems Biology, Protemics, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004220311457Test; https://doaj.org/toc/2589-0042Test
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6دورية أكاديمية
المؤلفون: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
المؤلفون: Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 6, p 900 (2021)
مصطلحات موضوعية: NAA10-related syndrome, X-linked disorder, syndromic and non-syndromic intellectual disability, genotype–phenotype correlation, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Patrick Sibony, Steven Laurie, Connor R. Ferguson, Laura Pardon, Millennia Young, Brandon R. Macias, F. James Rohlf
المساهمون: Patrick Sibony, Steven Laurie, Connor R. Ferguson, Laura Pardon, Millennia Young, Brandon R. Macias, F. James Rohlf
المصدر: 2023 North American Neuro-Ophthalmology Society Annual Meeting
مصطلحات موضوعية: Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc), Pseudotumor Cerebri, High Intracranial Pressure/Headache, Miscellaneous
وصف الملف: application/pdf
العلاقة: NANOS Annual Meeting 2023: Scientific Platform Session I; The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/tocTest/; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.eduTest; 20230313_nanos_sciplatform1_06; https://collections.lib.utah.edu/ark:/87278/s68gb9ysTest
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9دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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10دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base