Søgeresultater - Judit Horváth
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Microbiological Oxidation of Cholesterol with Azotobacter af Judit Horváth, A Krámli
Udgivet 1947Artigo -
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Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia af Manfred Fliegauf, Judit Horváth, Christian von Schnakenburg, Heike Olbrich, Dominik N. Müller, Julia Thumfart, Bernhard Schermer, Gregory J. Pazour, Hartmut P.H. Neumann, Hanswalter Zentgraf, Thomas Benzing, Heymut Omran
Udgivet 2006Artigo -
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The expression of the pituitary growth hormone-releasing hormone receptor and its splice variants in normal and neoplastic human tissues af Alexandre Havt, Andrew V. Schally, Gábor Halmos, József L. Varga, Gabor L. Toller, Judit Horváth, Károly Szepesházi, Frank Köster, Kevin L. Kovitz, Kate Groot, Márta Zarándi, Célia A. Kanashiro
Udgivet 2005Artigo -
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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility af Isabella Aprea, Johanna Raidt, Inga M. Höben, Niki T. Loges, Tabea Nöthe-Menchen, Petra Pennekamp, Heike Olbrich, Thomas Kaiser, Luisa Biebach, Frank Tüttelmann, Judit Horváth, Maria Schubert, Claudia Krallmann, Sabine Kliesch, Heymut Omran
Udgivet 2021Artigo -
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Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism af Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo F. H. Engelke, Judit Horváth, Manfred Fliegauf, Niki T. Loges, Susanne Schweitzer‐Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti‐Furga, Ron A. Wevers, Heymut Omran
Udgivet 2006Artigo -
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Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia af Bernhard Schermer, Katja Höpker, Heymut Omran, Cristina Ghenoiu, Manfred Fliegauf, Andrea Fekete, Judit Horváth, Michael Köttgen, Matthias J. Hackl, Stefan Zschiedrich, Tobias B. Huber, Albrecht Kramer-Zucker, Hanswalter Zentgraf, Andree Blaukat, Gerd Walz, Thomas Benzing
Udgivet 2005Artigo -
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<i>DNAH5</i> Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects af Nada Hornef, Heike Olbrich, Judit Horváth, Maimoona A. Zariwala, Manfred Fliegauf, Niki T. Loges, Johannes H. Wildhaber, Peadar G. Noone, Marcus P. Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüßlein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, Heymut Omran
Udgivet 2006Artigo -
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DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm af Niki T. Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horváth, Manfred Fliegauf, Heiner Kuhl, G Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O’Callaghan, Hannah Blau, László Tiszlavicz, Katarzyna Voelkel, Michał Witt, Ewa Ziętkiewicz, Jürgen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran
Udgivet 2008Artigo -
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Robot-induced hallucinations in Parkinson’s disease depend on altered sensorimotor processing in fronto-temporal network af Fosco Bernasconi, Eva Blondiaux, Jevita Potheegadoo, Giedre Stripeikyte, Javier Pagonabarraga, Helena Bejr‐Kasem, Michela Bassolino, Michel Akselrod, Saül Martínez‐Horta, Frederic Sampedro, Masayuki Hara, Judit Horváth, Matteo Franza, Stéphanie Konik, Matthieu Béreau, Joseph-André Ghika, Pierre R. Burkhard, Dimitri Van De Ville, Nathan Faivre, Giulio Rognini, Paul Krack, Jaime Kulisevsky, Olaf Blanke
Udgivet 2021Artigo -
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Mutations of<b><i>DNAI1</i></b>in Primary Ciliary Dyskinesia af Maimoona A. Zariwala, Margaret W. Leigh, Franck Ceppa, Marcus P. Kennedy, Peadar G. Noone, Johnny L. Carson, Milan J. Hazucha, Adriana Lori, Judit Horváth, Heike Olbrich, Niki T. Loges, Anne-Marie Bridoux, Gaëlle Pennarun, Bénédicte Duriez, Estelle Escudier, Hannah M. Mitchison, Rahul Chodhari, Eddie M.K. Chung, Lucy Morgan, Robb U. de Iongh, Jonathan Rutland, Ugo Pradal, Heymut Omran, Serge Amselem, Michael R. Knowles
Udgivet 2006Artigo -
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Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer af Nana Weber‐Lassalle, Julika Borde, Konstantin Weber‐Lassalle, Judit Horváth, Dieter Niederacher, Norbert Arnold, Silke Kaulfuß, Corinna Ernst, Victoria Paul, Ellen Honisch, Kristina Klaschik, Alexander E. Volk, Christian Kubisch, Steffen Rapp, Nadine Lichey, Janine Altmüller, Louisa Lepkes, Esther Pohl‐Rescigno, Hölger Thiele, Peter Nürnberg, Mirjam Larsen, Lisa Richters, Kerstin Rhiem, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen, Jan Hauke
Udgivet 2019Artigo -
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Prevalence of<i>BRCA1/2</i>germline mutations in 21 401 families with breast and ovarian cancer af Karin Kast, Kerstin Rhiem, Barbara Wappenschmidt, Eric Hahnen, Jan Hauke, Britta Bluemcke, V Zarghooni, N Herold, Nina Ditsch, Marion Kiechle, Michael Braun, Christine Fischer, Nicola Dikow, Sarah Schott, Nils Rahner, Dieter Niederacher, Tanja Fehm, Andrea Gehrig, Clemens Mueller-Reible, Norbert Arnold, Nicolaì Maass, Guntram Borck, Nikolaus de Gregorio, Caroline Scholz, Bernd Auber, Raymonda Varon-Manteeva, Dorothee Speiser, Judit Horváth, Nadine Lichey, Pauline Wimberger, Sylvia Stark, Ulrike Faust, Bernhard H. F. Weber, Günter Emons, Silke Zachariae, Alfons Meindl, Rita K. Schmutzler, Christoph Engel
Udgivet 2016Artigo -
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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer af Nana Weber‐Lassalle, Jan Hauke, Juliane Ramser, Lisa Richters, Eva Groß, Britta Blümcke, Andrea Gehrig, Anne-Karin Kahlert, Clemens R. Müller, Karl Hackmann, Ellen Honisch, Konstantin Weber‐Lassalle, Dieter Niederacher, Julika Borde, Hölger Thiele, Corinna Ernst, Janine Altmüller, Guido Neidhardt, Peter Nürnberg, Kristina Klaschik, Christopher Schroeder, Konrad Platzer, Alexander E. Volk, Shan Wang‐Gohrke, Walter Just, Bernd Auber, Christian Kubisch, Gunnar Schmidt, Judit Horváth, Barbara Wappenschmidt, Christoph Engel, Norbert Arnold, Bernd Dworniczak, Kerstin Rhiem, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
Udgivet 2018Artigo -
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Gene panel testing of 5589 <i><scp>BRCA</scp>1/2</i>‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Bre... af Jan Hauke, Judit Horváth, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Hölger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, N Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Rückert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
Udgivet 2018Artigo
Søgeredskaber:
Relaterede emner
Medicine
Biology
Genetics
Internal medicine
Gene
Mutation
Cancer
Missense mutation
Bronchiectasis
Lung
Oncology
Primary ciliary dyskinesia
Breast cancer
Cell biology
Cilium
Flagellum
Ovarian cancer
Pathology
Axoneme
Biochemistry
Ciliogenesis
Disease
Germline mutation
Intraflagellar transport
Motile cilium
Compound heterozygosity
Dynein
Endocrinology
Germline
Gynecology