Результаты поиска - Udo Trautmann

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  1. 1
    Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

    Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot по R. Rauch, Michael Hofbeck, Christiane Zweier, A. Koch, Stefan Zink, Udo Trautmann, Joachim Hoyer, Renate Kaulitz, H. Singer, Anita Rauch

    Опубликовано 2009
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    Artigo
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  2. 2
    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

    Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation по Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian T. Thiel, Franz Rüschendorf, Peter Nürnberg, André Reis, Udo Trautmann

    Опубликовано 2006
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    Artigo
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  3. 3
    Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

    Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays по Juliane Hoyer, Alexander Dreweke, C. Becker, Isabel Göhring, Christian T. Thiel, Maarit Peippo, Rami Rauch, Michael Hofbeck, Udo Trautmann, Christiane Zweier, Martin Zenker, Ulrike Hüffmeier, Cornelia Kraus, Arif B. Ekici, Franz Rüschendorf, Peter Nürnberg, André Reis, Anita Rauch

    Опубликовано 2007
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    Artigo
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  4. 4
    Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation

    Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation по Sarah A. Shoichet, Kirsten Hoffmann, Corinna Menzel, Udo Trautmann, Bettina A. Moser, Maria Hoeltzenbein, Bernard Échenne, M. W. Partington, Hans van Bokhoven, Claude Moraine, Jean‐Pierre Fryns, Jamel Chelly, Hans‐Dieter Rott, Hans‐Hilger Ropers, Vera M. Kalscheuer

    Опубликовано 2003
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    Artigo
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  5. 5
    Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

    Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium по Bernt Popp, Mandy Krumbiegel, Janina Grosch, Annika Sommer, Steffen Uebe, Zacharias Kohl, Sonja Plötz, Michaela Farrell, Udo Trautmann, Cornelia Kraus, Arif B. Ekici, Reza Asadollahi, Martin Regensburger, Katharina Günther, Anita Rauch, Frank Edenhofer, Jürgen Winkler, Beate Winner, André Reis

    Опубликовано 2018
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    Artigo
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  6. 6
    Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

    Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice по Michael S. Kraft, Ion Cristian Cirstea, Anne K. Voss, Tim Thomas, Ina Goehring, Bilal N. Sheikh, Lavinia Gordon, Hamish S. Scott, Gordon K. Smyth, Mohammad Reza Ahmadian, Udo Trautmann, Martin Zenker, Marco Tartaglia, Arif B. Ekici, André Reis, Helmuth-Guenther Dörr, Anita Rauch, Christian T. Thiel

    Опубликовано 2011
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    Artigo
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  7. 7
    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature по Nadine Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna‐Maria Jung, Steffen Uebe, Arif B. Ekici, Tilman Rohrer, André Reis, Helmuth‐Günther Dörr, Christian T. Thiel

    Опубликовано 2017
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    Artigo
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  8. 8
    Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

    Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature по Nadine Hauer, Bernt Popp, Schoeller Eva, Sarah Schuhmann, Karen E. Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B. Ekici, Anita Rauch, Heinrich Sticht, Helmuth‐Günther Dörr, André Reis, Christian T. Thiel

    Опубликовано 2017
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    Artigo
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