檢索結果 - Sabine Endele

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  1. 1
    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome

    In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome 由 Dietmar Wolff, Sabine Endele, Silvia Azzarello‐Burri, Juliane Hoyer, Markus Zweier, Ina Schanze, Bernhard Schmitt, Anita Rauch, André Reis, Christiane Zweier

    出版 2011
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  2. 2
    De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

    De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females 由 Bernt Popp, Svein I. Støve, Sabine Endele, Line M. Myklebust, Juliane Hoyer, Heinrich Sticht, Silvia Azzarello‐Burri, Anita Rauch, Thomas Arnesen, André Reis

    出版 2014
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  3. 3
    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene 由 Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Holger Petri, Eva‐Christina Prott, André Reis, Jochen Rübo, Bernhard Zabel, Martin Zenker, Johannes Hebebrand, Dagmar Wieczorek

    出版 2013
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  4. 4
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability

    Loss-of-function variants in HIVEP2 are a cause of intellectual disability 由 Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

    出版 2015
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  5. 5
    Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

    Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability 由 Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Rieß, Hartmut Engels, Anita Rauch, André Reis

    出版 2012
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  6. 6
    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome 由 Alma Kuechler, Alexander M. Zink, Thomas Wieland, H.-J. Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M. Strom, Gaia Novarino, Hartmut Engels

    出版 2014
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  7. 7
    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25... 由 Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera-Brenes, Gerardo Del Valle, James R. Lupski, Arif B. Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrantes, Corinna Berghoff, Martin Berghoff, B. Neundörfer, Dieter Heuß, Thomas Dorn, Peter Young, Lisa Santolin, Thomas Uhlmann, Michael Meisterernst, Michael W. Sereda, Gerd Meyer zu Hörste, Klaus‐Armin Nave, André Reis, Bernd Rautenstrauß

    出版 2009
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  8. 8
    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome 由 Georgia Vasileiou, Silvia Vergarajauregui, Sabine Endele, Bernt Popp, Christian Büttner, Arif B. Ekici, Marion Gérard, Nuria C. Bramswig, Beate Albrecht, Jill Clayton‐Smith, Jenny Morton, Susan Tomkins, Karen Low, Astrid Weber, Maren Wenzel, Janine Altmüller, Yun Li, Bernd Wollnik, George Hoganson, Maria-Renée Plona, Megan T. Cho, Christian T. Thiel, Hermann‐Josef Lüdecke, Tim M. Strom, Eduardo Calpena, Andrew O.M. Wilkie, Dagmar Wieczorek, Felix B. Engel, André Reis

    出版 2018
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  9. 9
    Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

    Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems 由 Anneke T. Vulto‐van Silfhout, Shivakumar Rajamanickam, Philip J. Jensik, Sarah Vergult, Nina De Rocker, Kathryn J. Newhall, Ramya Raghavan, Sara Reardon, Kelsey E. Jarrett, Tara McIntyre, Joseph Bulinski, Stacy L. Ownby, Jodi I. Huggenvik, G. Stanley McKnight, Gregory M. Rose, Xiang Cai, Andy Willaert, Christiane Zweier, Sabine Endele, Joep de Ligt, Bregje W.M. van Bon, Dorien Lugtenberg, Petra F. de Vries, Joris A. Veltman, Hans van Bokhoven, Han G. Brunner, Anita Rauch, Arjan P.M. de Brouwer, Gemma L. Carvill, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Björn Menten, Michael W. Collard, Bert B.A. de Vries

    出版 2014
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