Audrey Putoux


AuthID: R-00G-CRZ

Publications Awaiting Confirmation

1
TITLE: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals  Full Text
AUTHORS: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa Aranzasti, Amaia; Lesca, Gaetan; Lopez Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar; ...More
PUBLISHED: 2023, SOURCE: HUMAN GENETICS
INDEXED IN: Scopus WOS
2
TITLE: Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum  Full Text
AUTHORS: Sandra Whalen; Delphine Heron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Franc Oise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; Martine Le Merrer; Marlene Rio; Dragana Josifova; Johanna Maria Van Hagen; Didier Lacombe; Patrick Edery; Sophie Dupuis Girod; Audrey Putoux; Damien Sanlaville; Richard Fischer; Loic Drevillon; Audrey Briand Suleau; Corinne Metay; Michel Goossens; Jeanne Amiel; Aurelia Jacquette; Irina Giurgea; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef

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