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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
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TITLE: WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature  Full Text
AUTHORS: Perrine Brunelle; Anne Sophie Jourdain; Fabienne Escande; Jelena Martinovic; Juliette Dupont; Tiffany Busa; Anne Moncla; Frederic Frenois; Morgane Stichelbout; Sylvie Manouvrier Hanu; Florence Petit;
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 7
INDEXED IN: Scopus WOS
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TITLE: Can We Identify Patients with High Risk of Osteoarthritis Progression Who Will Respond to Treatment? A Focus on Biomarkers and Frailty  Full Text
AUTHORS: Nigel Arden; Pascal Richette; Cyrus Cooper; Olivier Bruyere; Eric Abadie; Jaime Branco; Maria Luisa Brandi; Francis Berenbaum; Cecile Clerc; Elaine Dennison; Jean Pierre Devogelaer; Marc Hochberg; Pieter D'Hooghe; Gabriel Herrero Beaumont; John A Kanis; Andrea Laslop; Veronique Leblanc; Stefania Maggi; Giuseppe Mautone; Jean Pierre Pelletier; Florence Petit Dop; Susanne Reiter Niesert; Rene Rizzoli; Lucio Rovati; Eleonora Tajana Messi; Yannis Tsouderos; Johanne Martel Pelletier; Jean Yves Reginster; ...More
PUBLISHED: 2015, SOURCE: DRUGS & AGING, VOLUME: 32, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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TITLE: Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations  Full Text
AUTHORS: Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
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TITLE: HEALTH ECONOMICS IN OSTEOARTHRITIS  Full Text
AUTHORS: Mickaael Hiligsmann; Cyrus Cooper; Nigel Arden; Marteen Boers; Jaime Branco; Maria Luisa Brandi; Olivier Bruyere; Francis Guillemin; Marc Hochberg; David Hunter; John A Kanis; Tore Kvien; Andrea Laslop; Florence Petit Dop; Jean Pierre Pelletier; Daniel Pinto; Susanne Reiter; Rene Rizzoli; Lucio C Rovati; Hans Severens; Stuart Silverman; Yannis Tsouderos; Peter Tugwell; Jean Yves Reginster; ...More
PUBLISHED: 2013, SOURCE: European Congress on Osteoporosis and Osteoarthritis (ESCEO-IOF) in OSTEOPOROSIS INTERNATIONAL, VOLUME: 24
INDEXED IN: WOS