Search Results - Gudrun A. Rappold

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  1. 1

    Celebrating the 100th anniversary of the Japan Endocrine Society and international collaborations by Gudrun A. Rappold

    Published in Endocrine Journal (2024-09-01)
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  2. 2

    A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders by Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A. Rappold

    Published in Journal of Neurodevelopmental Disorders (2018-04-01)
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  3. 3

    Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome by Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold

    Published in Advanced Science (2025-09-01)
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  4. 4

    Identification of novel genes including NAV2 associated with isolated tall stature by Birgit Weiss, Tim Ott, Philipp Vick, Julian C. Lui, Ralph Roeth, Sebastian Vogel, Stephan Waldmüller, Sandra Hoffmann, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold

    Published in Frontiers in Endocrinology (2023-12-01)
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  5. 5

    Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency by Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold

    Published in EMBO Molecular Medicine (2016-11-01)
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  6. 6

    Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation by Sandra Hoffmann, Sandra Hoffmann, Christoph Paone, Simon A. Sumer, Simon A. Sumer, Sabrina Diebold, Birgit Weiss, Ralph Roeth, Sebastian Clauss, Sebastian Clauss, Ina Klier, Ina Klier, Stefan Kääb, Stefan Kääb, Andreas Schulz, Philipp S. Wild, Adil Ghrib, Adil Ghrib, Tanja Zeller, Tanja Zeller, Renate B. Schnabel, Renate B. Schnabel, Steffen Just, Gudrun A. Rappold, Gudrun A. Rappold

    Published in Frontiers in Genetics (2019-07-01)
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  7. 7

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations by Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

    Published in Cell Death and Disease (2024-05-01)
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  8. 8

    A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease. by Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler

    Published in PLoS Genetics (2020-11-01)
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