Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg‐Strauss syndrome in a French urban multiethnic population in 2000: A capture–recapture estimate
Mahr, Alfred, Guillevin, Loïc, Poissonnet, Marc, Aymé, Ségolène
Published in Arthritis and rheumatism (15.02.2004)
Published in Arthritis and rheumatism (15.02.2004)
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Journal Article
Empowerment of patients: lessons from the rare diseases community
Aymé, Ségolène, Dr, Kole, Anna, MPH, Groft, Stephen, PharmD
Published in The Lancet (British edition) (14.06.2008)
Published in The Lancet (British edition) (14.06.2008)
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Journal Article
The Human Phenotype Ontology in 2017
Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh J S, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert B A, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, F Laulederkind, Stanley J, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W M, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O B, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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Journal Article
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Published in Neuromuscular disorders : NMD (01.08.2018)
Published in Neuromuscular disorders : NMD (01.08.2018)
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Journal Article
Conference Proceeding
Editorial: Prevention, diagnosis and treatment of rare disorders
Cox, Timothy M., Tylki-Szymańska, Anna, Aymé, Ségolène, Dooms, Marc
Published in Frontiers in pharmacology (28.09.2022)
Published in Frontiers in pharmacology (28.09.2022)
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Journal Article
The development of the public and professional policy committee
Aymé, Ségolène, Cornel, Martina C
Published in European journal of human genetics : EJHG (01.12.2017)
Published in European journal of human genetics : EJHG (01.12.2017)
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Journal Article
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
Walker, Caroline E, Mahede, Trinity, Davis, Geoff, Miller, Laura J, Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R, Baynam, Gareth S, Molster, Caron, Dawkins, Hugh J S, Weeramanthri, Tarun S
Published in Genetics in medicine (01.05.2017)
Published in Genetics in medicine (01.05.2017)
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Journal Article
Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)
Annemans, Lieven, Aymé, Ségolène, Le Cam, Yann, Facey, Karen, Gunther, Penilla, Nicod, Elena, Reni, Michele, Roux, Jean-Louis, Schlander, Michael, Taylor, David, Tomino, Carlo, Torrent-Farnell, Josep, Upadhyaya, Sheela, Hutchings, Adam, Le Dez, Lugdivine
Published in Orphanet journal of rare diseases (10.03.2017)
Published in Orphanet journal of rare diseases (10.03.2017)
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Journal Article
Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)
Tanno, Luciana Kase, Chalmers, Robert J G, Calderon, Moises A, Aymé, Ségolène, Demoly, Pascal
Published in Orphanet journal of rare diseases (16.03.2017)
Published in Orphanet journal of rare diseases (16.03.2017)
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Journal Article
State of the art of rare disease activities in Europe: a EUCERD perspective
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Journal Article
Conference Proceeding
Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules
Tanno, Luciana Kase, Simons, F Estelle R, Annesi-Maesano, Isabella, Calderon, Moises A, Aymé, Ségolène, Demoly, Pascal
Published in Orphanet journal of rare diseases (13.01.2017)
Published in Orphanet journal of rare diseases (13.01.2017)
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Journal Article
Ontological phenotype standards for neurogenetics
Köhler, Sebastian, Doelken, Sandra C., Rath, Ana, Aymé, Ségolène, Robinson, Peter N.
Published in Human mutation (01.09.2012)
Published in Human mutation (01.09.2012)
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Journal Article
State of the art of services in Europe: where are the problems?
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Journal Article
Conference Proceeding
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., Winkelmayer, Wolfgang C., Angelis, Aris, Antignac, Corinne, Bae, Kyongtae, Bergmann, Carsten, Bleyer, Anthony J., Bos, Marjolein, Budde, Klemens, Bull, Katherine, Chauveau, Dominique, Cnaan, Avital, Cornel, Martina, Cosyns, Etienne, de la Fosse, Jane, Ding, Jie, Gear, Susie, Goodship, Timothy H.J., Goodyer, Paul, Gross, Oliver, Harr, Nicole, Harris, Peter C., Harris, Tess, Höfele, Julia, Hogan, Marie C., Hoorn, Ewout, Horie, Shigeo, Kashtan, Clifford E., Kerecuk, Larissa, Kleta, Robert, Konrad, Martin, Langman, Craig B., Mariz, Segundo, McKerracher, Gayle, Nieuwenhoven, Annet, Odland, Dwight, Olinger, Eric, Ortiz, Alberto, Pei, York, Pirson, Yves, Rayner, Brian L., Remuzzi, Giuseppe, Renault, Daniel, Salomon, Rémi, Servais, Aude, Smith, Richard J., Soliman, Neveen A., Stengel, Bénédicte, Storm, Marjolein, Torra, Roser, van't Hoff, William, Vargas-Poussou, Rosa, Vroom, Elizabeth, Wanner, Christoph, Yap, Hui-Kim
Published in Kidney international (01.10.2017)
Published in Kidney international (01.10.2017)
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Journal Article