Not logged inXRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches
Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuss, Silke; Yigit, Goekhan; Mckeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey .png)
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SaveDelineation of the adult phenotype of Coffin-Siris syndrome in 35 individualsSchmetz, 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 Share Save Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysGanapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth Share Save The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save Phenotype diversity associated with TP63 mutationsSchmetz, Ariane; Xiong, Xing; Cesarato, Nicole; Basmanav, Fitnat Buket; Gierthmuehlen, Petra; Schaper, Joerg; Schlieper, Daniel; Wehner, Maria; Thiele, Holger; Frank, Jorge; Betz, Regina C.; Redler, Silke Share Save Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type XBucksch, Karolin; Zachariae, Silke; Ahadova, Aysel; Aretz, Stefan; Buttner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Hueneburg, Robert; Kloor, Matthias; Doeberitz, Magnus Knebel; Ladigan-Badura, Swetlana; Moeslein, Gabriela; Morak, Monika; Nattermann, Jacob; Huu Phuc Nguyen; Perne, Claudia; Redler, Silke; Schmetz, Ariane; Steinke-Lange, Verena; Surowy, Harald; Vangala, Deepak B.; Weitz, Juergen; Loeffler, Markus; Engel, Christoph Share Save Share Save THE ROLE OF PERFORMANCE-BASED RISK-SHARING AGREEMENTS IN MINIMISING PAYER UNCERTAINTY WHEN STANDARD OF CARE IS NOT CLEARLY DEFINED; THE EXAMPLE OF CROHN'S DISEASE RELATED COMPLEX PERIANAL FISTULASSchmetz, A.; Kaur, S.; Petrakis, I; Agboton, C.; Zouraq, Azzabi, I; Minda, K.; Rawson, K.; Campbell-Hill, S.; Baumgart, D. C. Share Save 
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