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Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.175-175, Article 175
2023
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Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-148, Article 148
- Audic, Frédérique
- de la Banda, Marta Gomez Garcia
- Bernoux, Delphine
- Ramirez-Garcia, Paola
- Durigneux, Julien
- Barnerias, Christine
- Isapof, Arnaud
- Cuisset, Jean-Marie
- Cances, Claude
- Richelme, Christian
- Vuillerot, Carole
- Laugel, Vincent
- Ropars, Juliette
- Altuzarra, Cécilia
- Espil-Taris, Caroline
- Walther-Louvier, Ulrike
- Sabouraud, Pascal
- Chouchane, Mondher
- Vanhulle, Catherine
- Trommsdorff, Valérie
- Pervillé, Anne
- Testard, Hervé
- Lagrue, Emmanuelle
- Sarret, Catherine
- Avice, Anne-Laude
- Beze-Beyrie, Pierre
- Pauly, Vanessa
- Quijano-Roy, Susana
- Chabrol, Brigitte
- Desguerre, Isabelle
2020
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American journal of human genetics, 2014-12, Vol.95 (6), p.637-648
- Colin, Estelle
- Huynh Cong, Evelyne
- Mollet, Géraldine
- Guichet, Agnès
- Gribouval, Olivier
- Arrondel, Christelle
- Boyer, Olivia
- Daniel, Laurent
- Gubler, Marie-Claire
- Ekinci, Zelal
- Tsimaratos, Michel
- Chabrol, Brigitte
- Boddaert, Nathalie
- Verloes, Alain
- Chevrollier, Arnaud
- Gueguen, Naig
- Desquiret-Dumas, Valérie
- Ferré, Marc
- Procaccio, Vincent
- Richard, Laurence
- Funalot, Benoit
- Moncla, Anne
- Bonneau, Dominique
- Antignac, Corinne
2014
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Annals of neurology, 2011-03, Vol.69 (3), p.501-508
2011
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Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.189-189
2024
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Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.204-204, Article 204
2023
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Frontiers in genetics, 2023-12, Vol.14, p.1242277-1242277
2023
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Orphanet journal of rare diseases, 2022-02, Vol.17 (1), p.68-68, Article 68
2022
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Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2016
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Research in developmental disabilities, 2018-05, Vol.76, p.25-34
2018
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Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100583-100583, Article 100583
2020
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Genetics in Medicine Open, 2024, Vol.2, p.101157
2024
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Brain & development (Tokyo. 1979), 2016-05, Vol.38 (5), p.498-506
2016
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Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.36-36
2012
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Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100543-100543, Article 100543
2019
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European journal of paediatric neurology, 2012-03, Vol.16 (2), p.149-160
- Humbertclaude, Véronique
- Hamroun, Dalil
- Bezzou, Kamel
- Bérard, Carole
- Boespflug-Tanguy, Odile
- Bommelaer, Christine
- Campana-Salort, Emmanuelle
- Cances, Claude
- Chabrol, Brigitte
- Commare, Marie-Christine
- Cuisset, Jean-Marie
- de Lattre, Capucine
- Desnuelle, Claude
- Echenne, Bernard
- Halbert, Cécile
- Jonquet, Olivier
- Labarre-Vila, Annick
- N’Guyen-Morel, Marie-Ange
- Pages, Michel
- Pepin, Jean-Louis
- Petitjean, Thierry
- Pouget, Jean
- Ollagnon-Roman, Elisabeth
- Richelme, Christian
- Rivier, François
- Sacconi, Sabrina
- Tiffreau, Vincent
- Vuillerot, Carole
- Picot, Marie-Christine
- Claustres, Mireille
- Béroud, Christophe
- Tuffery-Giraud, Sylvie
2012
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La Revue du praticien, 2020-02, Vol.70 (2), p.222
2020
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Brain & development (Tokyo. 1979), 2016-05, Vol.38 (5), p.461-470
2016
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The Journal of pediatrics, 2012-05, Vol.160 (5), p.875-876
2012
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Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1277-n/a
2020
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Frontiers in pediatrics, 2020-02, Vol.8, p.4-4
- Hully, Marie
- Barnerias, Christine
- Chabalier, Delphine
- Le Guen, Sophie
- Germa, Virginie
- Deladriere, Elodie
- Vanhulle, Catherine
- Cuisset, Jean-Marie
- Chabrol, Brigitte
- Cances, Claude
- Vuillerot, Carole
- Espil, Caroline
- Mayer, Michele
- Nougues, Marie-Christine
- Sabouraud, Pascal
- Lefranc, Jeremie
- Laugel, Vincent
- Rivier, Francois
- Louvier, Ulrike Walther
- Durigneux, Julien
- Napuri, Sylvia
- Sarret, Catherine
- Renouil, Michel
- Masurel, Alice
- Viallard, Marcel-Louis
- Desguerre, Isabelle
2020
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Brain & development (Tokyo. 1979), 2011-09, Vol.33 (8), p.687-691
2011
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Journal of clinical medicine, 2020-07, Vol.9 (8), p.2343
- Serratrice, Christine
- Stirnemann, Jérôme
- Berrahal, Amina
- Belmatoug, Nadia
- Camou, Fabrice
- Caillaud, Catherine
- Billette de Villemeur, Thierry
- Dalbies, Florence
- Cador, Bérengère
- Froissart, Roseline
- Masseau, Agathe
- Brassier, Anaïs
- Hivert, Bénédicte
- Swiader, Laure
- Bertchansky, Ivan
- de Moreuil, Claire
- Chabrol, Brigitte
- Durieu, Isabelle
- Leguy Seguin, Vanessa
- Astudillo, Leonardo
- Humbert, Sébastien
- Pichard, Samia
- Marcel, Catherine
- Hau Rainsard, Isabelle
- Bengherbia, Monia
- Yousfi, Karima
- Berger, Marc G.
2020
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The Lancet (British edition), 2017-09, Vol.390 (10101), p.1489-1498
- McDonald, Craig M
- Campbell, Craig
- Torricelli, Ricardo Erazo
- Finkel, Richard S
- Flanigan, Kevin M
- Goemans, Nathalie
- Heydemann, Peter
- Kaminska, Anna
- Kirschner, Janbernd
- Muntoni, Francesco
- Osorio, Andrés Nascimento
- Schara, Ulrike
- Sejersen, Thomas
- Shieh, Perry B
- Sweeney, H Lee
- Topaloglu, Haluk
- Tulinius, Már
- Vilchez, Juan J
- Voit, Thomas
- Wong, Brenda
- Elfring, Gary
- Kroger, Hans
- Luo, Xiaohui
- McIntosh, Joseph
- Ong, Tuyen
- Riebling, Peter
- Souza, Marcio
- Spiegel, Robert J
- Peltz, Stuart W
- Mercuri, Eugenio
- Alfano, Lindsay N
- Eagle, Michelle
- James, Meredith K
- Lowes, Linda
- Mayhew, Anna
- Mazzone, Elena S
- Nelson, Leslie
- Rose, Kristy J
- Abdel-Hamid, Hoda Z
- Apkon, Susan D
- Barohn, Richard J
- Bertini, Enrico
- Bloetzer, Clemens
- de Vaud, Lausanne Canton
- Butterfield, Russell J
- Chabrol, Brigitte
- Chae, Jong-Hee
- Jongno-gu, Daehak-ro
- Comi, Giacomi Pietro
- Darras, Basil T
- Dastgir, Jahannaz
- Desguerre, Isabelle
- Escobar, Raul G
- Finanger, Erika
- Guglieri, Michela
- Hughes, Imelda
- Iannaccone, Susan T
- Jones, Kristi J
- Karachunski, Peter
- Kudr, Martin
- Lotze, Timothy
- Mah, Jean K
- Mathews, Katherine
- Nevo, Yoram
- Parsons, Julie
- Péréon, Yann
- de Queiroz Campos Araujo, Alexandra Prufer
- Renfroe, J Ben
- de Resende, Maria Bernadete Dutra
- Ryan, Monique
- Selby, Kathryn
- Tennekoon, Gihan
- Vita, Giuseppe
2017
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Clinical chemistry (Baltimore, Md.), 2022-03, Vol.68 (4), p.604-606
2022
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