Zobrazeno 1 - 4
of 4
pro vyhledávání: '"the AnDDI-Rares network"'
Autor:
Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Si
Externí odkaz:
https://doaj.org/article/216dd0ccc9184791b1c6f53a91e40c0a
Autor:
MESSIAEN, Claude, RACINE, Caroline, KHATIM, Ahlem, SOUSSAND, Louis, ODENT, Sylvie, LACOMBE, Didier, MANOUVRIER, Sylvie, EDERY, Patrick, SIGAUDY, Sabine, GENEVIEVE, David, THAUVIN-ROBINET, Christel, PASQUIER, Laurent, PETIT, Florence, ROSSI, Massimiliano, WILLEMS, Marjolaine, ATTIE-BITACH, Tania, ROUX-LEVY, Pierre-Henry, DEMOUGEOT, Laurent, BEN SLAMA, Lilia, LANDAIS, Paul, THE ANDDI-RARES, Network, JANNOT, Anne-Sophie, BINQUET, Christine, SANDRIN, Arnaud, VERLOES, Alain, FAIVRE, Laurence
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Orphanet Journal of Rare Diseases, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩
Orphanet Journal of Rare Diseases, BioMed Central, 2021, 16 (1), ⟨10.1186/s13023-021-01957-4⟩
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
Background In France, the Ministry of Health has implemented a comprehensive program for rare diseases (RD) that includes an epidemiological program as well as the establishment of expert centers for the clinical care of patients with RD. Since 2007,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d799c0b0c50f4afab671d6ee557d3dc1
http://hdl.handle.net/20.500.12278/112870
http://hdl.handle.net/20.500.12278/112870
Akademický článek
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Autor:
Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F., Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, 2023, 14, pp.1099995. ⟨10.3389/fgene.2023.1099995⟩
Frontiers in Genetics, 2023, 14, pp.1099995. ⟨10.3389/fgene.2023.1099995⟩
Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French nat