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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: Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
AUTHORS: Shahida Moosa; Guilherme L Yamamoto; Lutz Garbes; Katharina Keupp; Ana Beleza Meireles; Carolina Araujo Moreno; Eugenia Ribeiro Valadares; Sergio B de Sousa; Sofia Maia; Jorge Saraiva; Rachel S Honjo; Chong Ae Kim; Hamilton Cabral de Menezes; Ekkehart Lausch; Pablo Villavicencio Lorini; Arsonval Lamounier; Tulio Canella B Bezerra Carniero; Cecilia Giunta; Marianne Rohrbach; Marco Janner; Oliver Semler; Filippo Beleggia; Yun Li; Goekhan Yigit; Nadine Reintjes; Janine Altmueller; Peter Nuernberg; Denise P Cavalcanti; Bernhard Zabel; Matthew L Warman; Debora R Bertola; Bernd Wollnik; Christian Netzer; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS