Zobrazeno 1 - 10
of 34
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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, Faivre, Laurence
Additional file 1: Table S1. The minimum data set of the CEMARA database. Table S2. The twenty most frequent groups of diseases, with their ORPHA code, number seen in the AnDDI-Rares network, number in CEMARA (differential number seen by reference ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a26707fce8b2635a97dddf5be769ce
Autor:
Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, Faivre, Laurence
Additional file 2: Figure S1. Access to care and referrals. A: Map of the network: RCRD (round)/CERD (triangles) of the network, with inactive centers for entering patients in the CEMARA database in yellow. B: Number of patients with a developmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c558c5ec118765d79aec6514a9d79e
Autor:
Messiaen, Claude, Racine, Caroline, Khatim, Ahlem, Soussand, Louis, Odent, Sylvie, Lacombe, Didier, Manouvrier, Sylvie, Edery, Patrick, Sigaudy, Sabine, Geneviève, David, Thauvin-Robinet, Christel, Pasquier, Laurent, Petit, Florence, Rossi, Massimiliano, Willems, Marjolaine, Attié-Bitach, Tania, Roux-Levy, Pierre-Henry, Demougeot, Laurent, Slama, Lilia Ben, Landais, Paul, Jannot, Anne-Sophie, Binquet, Christine, Sandrin, Arnaud, Verloes, Alain, Faivre, Laurence
Additional file 3: Data 1. Handling of duplicates. For the 4 diseases of interest, LinkPlus detected 247 potential pairs including 163 exact match pairs. For the remaining pairs (84), we conducted a manual review. The file with the last activity was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::005c15e413976a76d628afbe78fea6ab
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Thomas, Hortense, Alix, Tom, Renard, Émeline, Renaud, Mathilde, Wourms, Justine, Zuily, Stéphane, Leheup, Bruno, Geneviève, David, Dreumont, Natacha, Schmitt, Emmanuelle, Bronner, Myriam, Muller, Marc, Divoux, Marion, Wandzel, Marion, Ravel, Jean- Marie, Dexheimer, Mylène, Becker, Aurélie, Roth, Virginie, Willems, Marjolaine, Coubes, Christine
Publikováno v:
Journal of Medical Genetics; Sep2024, Vol. 61 Issue 9, p878-885, 8p
Autor:
Garde, Aurore, Cornaton, Jenny, Sorlin, Arthur, Moutton, Sébastien, Nicolas, Claire, Juif, Christine, Geneviève, David, Perrin, Laurence, Khau‐Van‐Kien, Philippe, Smol, Thomas, Vincent‐Delorme, Catherine, Isidor, Bertrand, Cogné, Benjamin, Afenjar, Alexandra, Keren, Boris, Coubes, Christine, Prieur, Fabienne, Toutain, Annick, Trousselet, Yann, Bourgouin, Solène
Publikováno v:
Clinical Genetics; Mar2021, Vol. 99 Issue 3, p407-417, 11p
Autor:
Soussand, Louis1 (AUTHOR), Kuchenbuch, Mathieu2,3 (AUTHOR), Messiaen, Claude1 (AUTHOR), Sandrin, Arnaud1 (AUTHOR), Jannot, Anne-Sophie1,4,5 (AUTHOR), Nabbout, Rima2,3,4 (AUTHOR) rima.nabbout@aphp.fr
Publikováno v:
Orphanet Journal of Rare Diseases. 12/9/2022, Vol. 17 Issue 1, p1-10. 10p.