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Diagnostic value of partial exome sequencing in developmental disorders. by Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Published 2018-01-01
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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
Published 2023-01-01
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