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收藏分享 收藏 分享 收藏 Deregulated expression of EZH2 in congenital brainstem disconnection
Barth, P. G.; Aronica, E.; Fox, S.; Fluiter, K.; Weterman, M. A. J.; Poretti, A.; Miller, D. C.; Boltshauser, E.; Harding, B.; Santi, M.; Baas, F. 分享 收藏 分享 收藏 Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresChong, Jessica X.; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M.; Jamal, Seema M.; Tabor, Holly K.; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E.; Nickerson, Deborah A.; Bamshad, Michael J. 分享 收藏 47 patients with FLNA associated periventricular nodular heterotopiaLange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K.; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute 分享 收藏 Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeRoosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L.; Rosti, Rasim O.; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S.; Swoboda, Kathryn J.; Milisa-Drautz, Joanne; Dobyns, William B.; Mikati, Mohamed A.; Incecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L.; D'Arrigo, Stefano; Stromme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A.; Freilinger, Michael; Vaux, Keith K.; Gabriel, Stacey B.; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D.; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G. 分享 收藏 Incidence and Outcomes of Symptomatic Neonatal Arterial Ischemic StrokeGrunt, Sebastian; Mazenauer, Lea; Buerki, Sarah E.; Boltshauser, Eugen; Mori, Andrea Capone; Datta, Alexandre N.; Fluss, Joel; Mercati, Danielle; Keller, Elmar; Maier, Oliver; Poloni, Claudia; Ramelli, Gian-Paolo; Schmitt-Mechelke, Thomas; Steinlin, Maja 分享 收藏 Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneElsayed, Solaf M.; Phillips, Jennifer B.; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nuernberg, Gudrun; Nuernberg, Peter; Seland, Saskia; Ebermann, Inga; Altmueller, Janine; Thiele, Holger; Toliat, Mohammad; Koerber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S.; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J. 分享 收藏 分享 收藏 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; Accorsi, Patrizia; Avola, Emanuela; Bertini, Enrico; Borgatti, Renato; Romaniello, Romina; Ceylaner, Serdar; Coppola, Giangennaro; D'Arrigo, Stefano; Giordano, Lucio; Janecke, Andreas R.; Lituania, Mario; Ludwig, Kathrin; Martorell, Loreto; Mazza, Tommaso; Odent, Sylvie; Pinelli, Lorenzo; Poo, Pilar; Santucci, Margherita; Signorini, Sabrina; Simonati, Alessandro; Spiegel, Ronen; Stanzial, Franco; Steinlin, Maja; Tabarki, Brahim; Wolf, Nicole I.; Zibordi, Federica; Boltshauser, Eugen; Valente, Enza Maria 分享 收藏 Horizontal head titubation in infants with Joubert syndrome: a new findingPoretti, Andrea; Christen, Hans-Juergen; Elton, Lindsay E.; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen 分享 收藏 分享 收藏 分享 收藏 Basilar artery stroke in childhoodSimonetti, Barbara Goeggel; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja 分享 收藏 分享 收藏 CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumLee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M.; Merriman, Barry; Attie-Bitach, Tania; Logan, Clare V.; Glass, Ian A.; Cluckey, Andrew; Louie, Carrie M.; Lee, Jeong Ho; Raynes, Hilary R.; Rapin, Isabelle; Castroviejo, Ignacio P.; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F.; Hildebrandt, Friedhelm; Johnson, Colin A.; Doherty, Daniel A.; Valente, Enza Maria; Gleeson, Joseph G. 分享 收藏 Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VIPoretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C. M.; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A. G. M.; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M.; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E.; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen 分享 收藏 分享 收藏 
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