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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: European Consortium of Lipodystrophies Registry, 2022
AUTHORS: von Schnurbein, Julia; Gambinieri, Alessandra; Fernandez Pombo, Antia; Akinci, Baris; Vatier, Camille; Cecchetti, Carolina; Adiyaman, Cem; Vigoroux, Corrine; Araujo Vilar, David; Savage, David; Gilio, Donatella; Bismuth, Elise; Sorkina, Ekaterina; Vorona, Elena; Silva, Ermelinda Santos; Nobecourt, Estelle; Csajbok, Eva; Santini, Ferrucio; Prodam, Flavia; Nagel, Gabriele; Aimaretti, Gianluca; Latanzi, Giovanna; Ceccarini, Giovanni; Novelli, Giuseppe; Simsir, Ilgin Yildirim; Jeru, Isabelle; Stotl, Iztok; Carel, Jean Claude; Writzl, Karin; Heldt, Katrin; Miehle, Konstanze; Kleinendorst, Lotte; D'Apice, Maria Rosaria; Beghini, Mariana; Vantyghem, Marie Christine; Broekema, Marjoleine; Fasshauer, Mathias; Stumvoll, Michael; Sbraccia, Paolo; Ozen, Samim; Magno, Silvia; Scherer, Thomas; Daffara, Thomaso; Pekkolay, Zafer; Wabitsch, Martin; ...More
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
INDEXED IN: WOS