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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, 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
المساهمون: Jackson, A., Lin, S. -J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Matalonga, L., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Ben Yaou, R., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Hanna, M., Houlden, H., Reilly, M., Vandrovcova, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., Van de Vondel, L., Beijer, D., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Balicza, P., Molnar, M. J., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., Macaya, A., Marce-Grau, A., Osorio, A. N., Natera de Benito, D., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Rodriguez Cruz, P. M., Hackman, P., Johari, M., Savarese, M., Udd, B., Horvath, R., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., Rump, A., Varshney, G. K.
المصدر: Genomics England Research Consortium, Jackson, A, Lin, S-J, Jones, E A, Chandler, K E, Orr, D, Moss, C, Haider, Z, Ryan, G, Harrison, M, Burrows, N, Jones, W D, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Varshney, G K & Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186, pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
HGG Adv
HGG Advances, 4, 2مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Hypodontia, Closca, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Ectodermal dysplasia, TSPEAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Conical teeth, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Enamel knot, Autosomal recessive ectodermal dysplasia type 14, WNT10A, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Extracellular matrix dependant signalling, Molecular Medicine, zebrafish fin regeneration, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a406c5a168d5b00147c9f04b9014ef2Test
https://doi.org/10.1016/j.xhgg.2023.100186Test -
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المؤلفون: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath
المصدر: Genetics in Medicine. 22:1391-1400
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, business.industry, Computer science, Gold standard (test), 030105 genetics & heredity, Crowdsourcing, 03 medical and health sciences, Annotation, Identification (information), 030104 developmental biology, Documentation, Knowledge base, Similarity (psychology), Web application, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347Test
https://doi.org/10.1038/s41436-020-0812-7Test -
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المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
المساهمون: Wellcome Trust, British Heart Foundation
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test -
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المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani
المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo, University of Zurich, Ferreira C.R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group, Carelli V.
المصدر: J Inherit Metab Dis
مصطلحات موضوعية: Nosology, medicine.medical_specialty, 2716 Genetics (clinical), Expert advice, 610 Medicine & health, Genetic Condition, Article, ICIMD, 03 medical and health sciences, 1311 Genetics, International Classification of Diseases, Genetics, Humans, Relevance (law), Medicine, ontology, Intensive care medicine, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mechanism (biology), business.industry, 030305 genetics & heredity, inherited metabolic disorder, classification, inherited metabolic disorders, 10036 Medical Clinic, Metabolism, Inborn Error, business, Metabolism, Inborn Errors, Human
وصف الملف: ZORA195359.pdf - application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930ae4ce9c4dcc3aea4f4c92bbfda714Test
http://hdl.handle.net/11588/854605Test -
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المؤلفون: Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, genetic structures, education, Pharmacology toxicology, lcsh:Medicine, 030105 genetics & heredity, behavioral disciplines and activities, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Humans, Pharmacology (medical), Precision Medicine, Workgroup, Genetics (clinical), Evidence-Based Medicine, lcsh:R, Correction, Computational Biology, Foundation (evidence), General Medicine, eye diseases, humanities, Biological Ontologies, Ontology, Optometry, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47d594c9d803d1c89f2c935ed1a9bfacTest
https://doi.org/10.1186/s13023-019-1156-8Test -
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المؤلفون: Ana Rath, Annie Olry, Yann Le Cam, Deborah M. Lambert, Charlotte Rodwell
المصدر: Eur J Hum Genet
مصطلحات موضوعية: business.industry, Correspondence, Genetics, Medicine, business, Humanities, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72daee54884339eed6168019d8e194e6Test
https://doi.org/10.1038/s41431-020-00764-yTest -
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المؤلفون: Michael Brudno, Ana Rath, Alexander X. Lozano, Annie Olry, Tugce B. Balci, Sylvie Maiella, Sarah L. Sawyer, Peter N. Robinson, Brittney Johnstone, Pouria Mashouri, Mia Husić, Willie H. Chang
المصدر: Genetics in Medicine. 22:1427
مصطلحات موضوعية: Information retrieval, Computer science, business.industry, Published Erratum, MEDLINE, Crowdsourcing, business, Phenotype, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::eb843727ba26a01b9ff3f6c6b1feff79Test
https://doi.org/10.1038/s41436-020-0866-6Test -
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المؤلفون: Michael Brudno, Ana Rath, Helen Parkinson, Tudor Groza, Marc Hanauer, Sebastian Köhler, Simon Jupp, Charlotte Rodwell, Dominik Seelow, Halima Lourghi, Sylvie Maiella, Valérie Lanneau, Annie Olry, Peter N. Robinson, Bruno Donadille
المصدر: European journal of medical genetics. 61(11)
مصطلحات موضوعية: 0301 basic medicine, Databases, Factual, Interoperability, Computational Biology, Biological Ontologies, General Medicine, Ontology (information science), Data science, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Resource (project management), Phenomics, Phenotype, Rare Diseases, Controlled vocabulary, Human Phenotype Ontology, Genetics, Humans, Exome, 030217 neurology & neurosurgery, Genetics (clinical), Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dc2a69fbea71a1ff99ef711eb99e86Test
https://pubmed.ncbi.nlm.nih.gov/29425702Test -
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المؤلفون: Bruno Urbero, Ferdinand Dhombres, Ana Rath, Ségolène Aymé, Maja Miličić Brandt, Annie Olry
المصدر: Human mutation. 33(5)
مصطلحات موضوعية: SNOMED CT, Databases, Factual, Relational database, Information Dissemination, Unified Medical Language System, Semantic interoperability, Ontology (information science), Biology, Online Systems, Terminology, World Wide Web, Orphan drug, Rare Diseases, Terminology as Topic, Genetics, Information system, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50105e8a414750301a910ffe33139dcTest
https://pubmed.ncbi.nlm.nih.gov/22422702Test -
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المؤلفون: Bertrand Bellet, Ana Rath, Catherine Gonthier, Annie Olry, Ségolène Aymé
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Medicine(all), SNOMED CT, Medical terminology, business.industry, Interoperability, Library science, ICD-10, General Medicine, Health informatics, Systematized Nomenclature of Medicine, Political science, Health care, Oral Presentation, Genetics(clinical), Pharmacology (medical), business, Genetics (clinical), Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1442f72567ee8b5061fde212290c4deTest
https://doi.org/10.1186/1750-1172-9-s1-o11Test