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The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 87, Issue 2, pp. 189 - 198
Journal Article
2005, American journal of medical genetics., Volume 137C, no. 1., 77
Book
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2014, Volume 46, Issue 12, pp. 1283 - 1292
Journal Article
Journal Article
by Miguet, Marguerite and Faivre, Laurence and Amiel, Jeanne and Nizon, Mathilde and Touraine, Renaud and Prieur, Fabienne and Pasquier, Laurent and Lefebvre, Mathilde and Thevenon, Julien and Dubourg, Christèle and Julia, Sophie and Sarret, Catherine and Remerand, Ganaëlle and Francannet, Christine and Laffargue, Fanny and Boespflug-Tanguy, Odile and David, Albert and Isidor, Bertrand and Vigneron, Jacqueline and Leheup, Bruno and Lambert, Laetitia and Philippe, Christophe and Béri-Dexheimer, Mylène and Cuisset, Jean-Marie and Andrieux, Joris and Plessis, Ghislaine and Toutain, Annick and Guibaud, Laurent and Cormier-Daire, Valérie and Rio, Marlene and Bonnefont, Jean-Paul and Echenne, Bernard and Journel, Hubert and Burglen, Lydie and Chantot-Bastaraud, Sandrine and Bienvenu, Thierry and Baumann, Clarisse and Perrin, Laurence and Drunat, Séverine and Jouk, Pierre-Simon and Dieterich, Klaus and Devillard, Françoise and Lacombe, Didier and Philip, Nicole and Sigaudy, Sabine and Moncla, Anne and Missirian, Chantal and Badens, Catherine and Perreton, Nathalie and Thauvin-Robinet, Christel and AChro-Puce, Réseau and Pedespan, Jean-Michel and Rooryck, Caroline and Goizet, Cyril and Vincent-Delorme, Catherine and Duban-Bedu, Bénédicte and Bahi-Buisson, Nadia and Afenjar, Alexandra and Maincent, Kim and Héron, Delphine and Alessandri, Jean-Luc and Martin-Coignard, Dominique and Lesca, Gaëtan and Rossi, Massimiliano and Raynaud, Martine and Callier, Patrick and Mosca-Boidron, Anne-Laure and Marle, Nathalie and Coutton, Charles and Satre, Véronique and Caignec, Cédric Le and Malan, Valérie and Romana, Serge and Keren, Boris and Tabet, Anne-Claude and Kremer, Valérie and Scheidecker, Sophie and Vigouroux, Adeline and Lackmy-Port-Lis, Marilyn and Sanlaville, Damien and Till, Marianne and Carneiro, Maryline and Gilbert-Dussardier, Brigitte and Willems, Marjolaine and Van Esch, Hilde and Portes, Vincent Des and El Chehadeh, Salima
Journal of medical genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 359 - 371
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated... 
X-linked | genetic counselling | MECP2duplication syndrome | Xq28 duplication | MECP2gene | facial dysmorphism | INCLUDING MECP2 | RETT-SYNDROME | SEVERE MENTAL-RETARDATION | RECURRENT INFECTIONS | XQ28 DUPLICATIONS | GENETICS & HEREDITY | FEMALES | HIRSCHSPRUNGS-DISEASE | MUTATIONS | GENE COPY NUMBER | FILAMIN-A | Life Sciences | Genetics | Human genetics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2016, Volume 170, Issue 1, pp. 116 - 129
Journal Article
Revue du Rhumatisme monographies, ISSN 1878-6227, 02/2019, Volume 86, Issue 1, pp. 69 - 73
Les maladies osseuses constitutionnelles sont des maladies rares qui nécessitent une prise en charge pluridisciplinaire, tout au long de la vie. Les PNMR1 et... 
Rare bone diseases | PNMR | National network | Maladies osseuses rares | CRMR | Reference center | Filière
Journal Article
Revue du Rhumatisme Monographies, ISSN 1878-6227, 02/2019, Volume 86, Issue 1, pp. 69 - 73
Skeletal dysplasia are rare diseases that require multidisciplinary care throughout life. The PNMR1 and 2 have allowed the labeling of the center for skeletal... 
Rare bone diseases | National network | Reference center
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, p. 207
Journal Article