Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis by Markus Kraemer, Quoc Bao Huynh, Dagmar Wieczorek, Brunilda Balliu, Barbara Mikat, Stefan Boehringer

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Rare copy number variants are a common cause of short stature. by Diana Zahnleiter, Steffen Uebe, Arif B Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T Thiel

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Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome by Katharina L. Gössling, Cyrill Schipp, Ute Fischer, Florian Babor, Gerhard Koch, Friedhelm R. Schuster, Jutta Dietzel-Dahmen, Dagmar Wieczorek, Arndt Borkhardt, Roland Meisel, Michaela Kuhlen

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Integrative analysis revealed the molecular mechanism underlying RBM10‐mediated splicing regulation by Yongbo Wang, Andreas Gogol‐Döring, Hao Hu, Sebastian Fröhler, Yunxia Ma, Marvin Jens, Jonas Maaskola, Yasuhiro Murakawa, Claudia Quedenau, Markus Landthaler, Vera Kalscheuer, Dagmar Wieczorek, Yang Wang, Yuhui Hu, Wei Chen

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PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals by Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Maria K Haanpää, Hannele Koillinen, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Dagmar Wieczorek, Frank J Kaiser, Frank J Kaiser, Alma Kuechler, Alma Kuechler

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