Not logged in Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome Schottmann, Gudrun; Almudever, Carmen Martinez; Knop, Julia C. M.; Suk, Eun Kyung; Meyer, Zianka; Kohlhase, Jurgen; Himmelreich, Nastassja; Kuehnisch, Jirko; Ott, Claus-Eric; Seifert, Wenke Share Save
Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB Howaldt, Antonia; Lenglez, Sandrine; Velmans, Clara; Schultheis, Anne Maria; Clahsen, Thomas; Matthaei, Mario; Kohlhase, Juergen; Vokuhl, Christian; Buettner, Reinhard; Netzer, Christian; Demoulin, Jean -Baptiste; Cursiefen, Claus Share Save
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Hueffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Mau-Them, Frederic Tran; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.; Zacher, Pia; Abou Jamra, Rami; Kloeckner, Chiara; McGaughran, Julie; Kohlhase, Juergen; Schuhmann, Sarah; Moran, Ellen; Pappas, John; Raas-Rothschild, Annick; Sacoto, Maria J. Guillen; Henderson, Lindsay B.; Palculict, Timothy Blake; Mullegama, Sureni, V; Elloumi, Houda Zghal; Reich, Adi; Vergano, Samantha A. Schrier; Wahl, Erica; Reis, Andre; Zweier, Christiane Share Save
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study Coektue, Suemeyye; Spix, Claudia; Kaiser, Melanie; Beygo, Jasmin; Kleinle, Stephanie; Bachmann, Nadine; Kohlschmidt, Nicolai; Prawitt, Dirk; Beckmann, Alf; Klaes, Ruediger; Nevinny-Stickel-Hinzpeter, Claudia; Doehnert, Steffi; Kraus, Cornelia; Kadgien, Gundula; Vater, Inga; Biskup, Saskia; Kutsche, Michael; Kohlhase, Juergen; Eggermann, Thomas; Zenker, Martin; Kratz, Christian P. Share Save
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Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome Bozal-Basterra, Laura; Martin-Ruiz, Itziar; Pirone, Lucia; Liang, Yinwen; Sigurdsson, Jon Otti; Gonzalez-Santamarta, Maria; Giordano, Immacolata; Gabicagogeascoa, Estibaliz; de Luca, Angela; Rodriguez, Jose A.; Wilkie, Andrew O. M.; Kohlhase, Juergen; Eastwood, Deborah; Yale, Christopher; Olsen, Jesper V.; Rauchman, Michael; Anderson, Kathryn V.; Sutherland, James D.; Barrio, Rosa Share Save
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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Soehn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmueller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Baets, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Ruediger; Sturm, Marc; Roeske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Bruestle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; de Jonghe, Peter; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Juergen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schoels, Ludger; Nuernberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo; Schuele, Rebecca Share Save
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Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes Kratz, C. P.; Franke, L.; Peters, H.; Kohlschmidt, N.; Kazmierczak, B.; Finckh, U.; Bier, A.; Eichhorn, B.; Blank, C.; Kraus, C.; Kohlhase, J.; Pauli, S.; Wildhardt, G.; Kutsche, K.; Auber, B.; Christmann, A.; Bachmann, N.; Mitter, D.; Cremer, F. W.; Mayer, K.; Daumer-Haas, C.; Nevinny-Stickel-Hinzpeter, C.; Oeffner, F.; Schlueter, G.; Gencik, M.; Ueberlacker, B.; Lissewski, C.; Schanze, I.; Greene, M. H.; Spix, C.; Zenker, M. Share Save
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Next-generation sequencing in X-linked intellectual disability Tzschach, Andreas; Grasshoff, Ute; Beck-Woedl, Stefanie; Dufke, Claudia; Bauer, Claudia; Kehrer, Martin; Evers, Christina; Moog, Ute; Oehl-Jaschkowitz, Barbara; Di Donato, Nataliya; Maiwald, Robert; Jung, Christine; Kuechler, Alma; Schulz, Solveig; Meinecke, Peter; Spranger, Stephanie; Kohlhase, Juergen; Seidel, Joerg; Reif, Silke; Rieger, Manuela; Riess, Angelika; Sturm, Marc; Bickmann, Julia; Schroeder, Christopher; Dufke, Andreas; Riess, Olaf; Bauer, Peter Share Save
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance Schulz, Yvonne; Wehner, Peter; Opitz, Lennart; Salinas-Riester, Gabriela; Bongers, Ernie M. H. F.; van Ravenswaaij-Arts, Conny M. A.; Wincent, Josephine; Schoumans, Jacqueline; Kohlhase, Juergen; Borchers, Annette; Pauli, Silke Share Save
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