檢索結果 - Beatrice Oneda

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  1. 1
    The Metalloprotease Meprinβ Processes E-Cadherin and Weakens Intercellular Adhesion

    The Metalloprotease Meprinβ Processes E-Cadherin and Weakens Intercellular Adhesion 由 Maya Huguenin, Eliane J. Müller, Sandra Trachsel-Rösmann, Beatrice Oneda, Daniel Ambort, Erwin E. Sterchi, Daniel Lottaz

    出版 2008
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  2. 2
    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies 由 Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch

    出版 2023
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  3. 3
    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability 由 Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

    出版 2013
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  4. 4
    MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease

    MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease 由 Sanjita Banerjee, Beatrice Oneda, Lee Min Yap, D P Jewell, Gail L. Matters, Leo R. Fitzpatrick, Frank Seibold, Erwin E. Sterchi, Tariq Ahmad, Daniel Lottaz, Judith Bond

    出版 2009
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  5. 5
    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons

    Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons 由 Reza Asadollahi, Igor Delvendahl, Roman Muff, Ge Tan, Daymé González Rodríguez, Serap Turan, Marco Russo, Beatrice Oneda, Pascal Joset, Paranchai Boonsawat, Rahim Masood, Martina Mocera, Ivan Ivanovski, Alessandra Baumer, Ruxandra Bachmann‐Gagescu, Ralph Schlapbach, Hubert Rehrauer, Katharina Steindl, Anaïs Begemann, André Reis, Jürgen Winkler, Beate Winner, Martin Müller, Anita Rauch

    出版 2023
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  6. 6
    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

    The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study 由 Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, T. Iff, Thomas Schmitt‐Mechelke, K. Otten, Annette Hackenberg, Marie‐Claude Addor, Andrea Klein, Silvia Azzarello‐Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch

    出版 2018
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  7. 7
    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 由 Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Azzarello‐Burri, Frenny Sheth, Chaitanya Datar, Ishwar C. Verma, Ratna Dua Puri, Marcella Zollino, Ruxandra Bachmann‐Gagescu, Dunja Niedrist, Michael Papik, Joana Figueiro‐Silva, Rahim Masood, Markus Zweier, Dennis Kraemer, Sharyn A. Lincoln, Lance H. Rodan, Sandrine Passemard, Séverine Drunat, Alain Verloès, Anselm H. C. Horn, Heinrich Sticht, Robert Steinfeld, Barbara Plecko, Beatrice Latal, Oskar G. Jenni, Reza Asadollahi, Anita Rauch

    出版 2019
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