Search Results - Altmüller, Janine

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  1. 1
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    SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis by Bögershausen, Nina (Author) , Cavdarli, Büsranur (Author) , Nagai, Taylor H. (Author) , Milev, Miroslav P. (Author) , Wolff, Alexander (Author) , Mehranfar, Mahsa (Author) , Schmidt, Julia (Author) , Choudhary, Dharmendra (Author) , Gutiérrez-Gutiérrez, Óscar (Author) , Cyganek, Lukas (Author) , Saint-Dic, Djenann (Author) , Zibat, Arne (Author) , Köhrer, Karl (Author) , Wollenweber, Tassilo E. (Author) , Wieczorek, Dagmar (Author) , Altmüller, Janine (Author) , Borodina, Tatiana (Author) , Kaçar, Dilek (Author) , Haliloğlu, Göknur (Author) , Li, Yun (Author) , Thiel, Christian (Author) , Sacher, Michael (Author) , Knapik, Ela W. (Author) , Yigit, Gökhan (Author) , Wollnik, Bernd (Author) ,


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  2. 2
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    Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater by Wyler, Emanuel (Author) , Lauber, Chris (Author) , Manukyan, Artür (Author) , Deter, Aylina (Author) , Quedenau, Claudia (Author) , Teixeira Alves, Luiz Gustavo (Author) , Wylezich, Claudia (Author) , Borodina, Tatiana (Author) , Seitz, Stefan (Author) , Altmüller, Janine (Author) , Landthaler, Markus (Author) ,


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  3. 3
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    Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome by Busley, Alexandra Viktoria (Author) , Gutiérrez-Gutiérrez, Óscar (Author) , Hammer, Elke (Author) , Koitka, Fabian (Author) , Mirzaiebadizi, Amin (Author) , Steinegger, Martin (Author) , Pape, Constantin (Author) , Böhmer, Linda (Author) , Schroeder, Henning (Author) , Kleinsorge, Mandy (Author) , Engler, Melanie (Author) , Cirstea, Ion Cristian (Author) , Gremer, Lothar (Author) , Willbold, Dieter (Author) , Altmüller, Janine (Author) , Marbach, Felix (Author) , Hasenfuss, Gerd (Author) , Zimmermann, Wolfram-Hubertus (Author) , Ahmadian, Mohammad Reza (Author) , Wollnik, Bernd (Author) , Cyganek, Lukas (Author) ,


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  4. 4
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    Germline C1GALT1C1 mutation causes a multisystem chaperonopathy by Erger, Florian (Author) , Aryal, Rajindra P. (Author) , Reusch, Björn (Author) , Matsumoto, Yasuyuki (Author) , Meyer, Robert (Author) , Zeng, Junwei (Author) , Knopp, Cordula (Author) , Noel, Maxence (Author) , Muerner, Lukas (Author) , Wenzel, Andrea (Author) , Kohl, Stefan (Author) , Tschernoster, Nikolai (Author) , Rappl, Gunter (Author) , Rouvet, Isabelle (Author) , Schröder-Braunstein, Jutta (Author) , Seibert, Felix S. (Author) , Thiele, Holger (Author) , Häusler, Martin G. (Author) , Weber, Lutz T. (Author) , Büttner-Herold, Maike (Author) , Elbracht, Miriam (Author) , Cummings, Sandra F. (Author) , Altmüller, Janine (Author) , Habbig, Sandra (Author) , Cummings, Richard D. (Author) , Beck, Bodo B. (Author) ,


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  5. 5
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    MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells by Reusch, Björn (Author) , Bartram, Malte P. (Author) , Dafinger, Claudia (Author) , Palacio-Escat, Nicolàs (Author) , Wenzel, Andrea (Author) , Fenton, Robert A. (Author) , Sáez Rodríguez, Julio (Author) , Schermer, Bernhard (Author) , Benzing, Thomas (Author) , Altmüller, Janine (Author) , Beck, Bodo B. (Author) , Rinschen, Markus M. (Author) ,


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  6. 6
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    RNA modification mapping with JACUSA2 by Piechotta, Michael (Author) , Naarmann-de Vries, Isabel S. (Author) , Wang, Qi (Author) , Altmüller, Janine (Author) , Dieterich, Christoph (Author) ,


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  7. 7
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    Prevalence of cancer predisposition germline variants in male breast cancer patients: results of the German Consortium for Hereditary Breast and Ovarian Cancer by Rolfes, Muriel (Author) , Borde, Julika (Author) , Möllenhoff, Kathrin (Author) , Kayali, Mohamad (Author) , Ernst, Corinna (Author) , Gehrig, Andrea (Author) , Sutter, Christian (Author) , Ramser, Juliane (Author) , Niederacher, Dieter (Author) , Horváth, Judit (Author) , Arnold, Norbert (Author) , Meindl, Alfons (Author) , Auber, Bernd (Author) , Rump, Andreas (Author) , Wang-Gohrke, Shan (Author) , Ritter, Julia (Author) , Hentschel, Julia (Author) , Thiele, Holger (Author) , Altmüller, Janine (Author) , Nürnberg, Peter (Author) , Rhiem, Kerstin (Author) , Engel, Christoph (Author) , Wappenschmidt, Barbara (Author) , Schmutzler, Rita (Author) , Hahnen, Eric (Author) , Hauke, Jan (Author) ,


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  8. 8
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    Full-length spatial transcriptomics reveals the unexplored isoform diversity of the myocardium post-MI by Boileau, Etienne (Author) , Li, Xue (Author) , Naarmann-de Vries, Isabel S. (Author) , Becker, Christian (Author) , Casper, Ramona (Author) , Altmüller, Janine (Author) , Leuschner, Florian (Author) , Dieterich, Christoph (Author) ,


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  9. 9
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    Human UPF3A and UPF3B enable fault‐tolerant activation of nonsense‐mediated mRNA decay by Wallmeroth, Damaris (Author) , Lackmann, Jan-Wilm (Author) , Kueckelmann, Sabrina (Author) , Altmüller, Janine (Author) , Dieterich, Christoph (Author) , Böhm, Volker (Author) , Gehring, Niels H. (Author) ,


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  10. 10
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    Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance by Schlautmann, Lena P. (Author) , Lackmann, Jan-Wilm (Author) , Altmüller, Janine (Author) , Dieterich, Christoph (Author) , Böhm, Volker (Author) , Gehring, Niels H. (Author) ,


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  11. 11
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    Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology by Kargapolova, Yulia (Author) , Rehimi, Rizwan (Author) , Kayserili, Hülya (Author) , Brühl, Joanna (Author) , Sofiadis, Konstantinos (Author) , Zirkel, Anne (Author) , Palikyras, Spiros (Author) , Mizi, Athanasia (Author) , Li, Yun (Author) , Yigit, Gökhan (Author) , Hoischen, Alexander (Author) , Frank, Stefan (Author) , Russ, Nicole (Author) , Trautwein, Jonathan (Author) , van Bon, Bregje (Author) , Gilissen, Christian (Author) , Laugsch, Magdalena (Author) , Gusmao, Eduardo Gade (Author) , Josipovic, Natasa (Author) , Altmüller, Janine (Author) , Nürnberg, Peter (Author) , Längst, Gernot (Author) , Kaiser, Frank J. (Author) , Watrin, Erwan (Author) , Brunner, Han (Author) , Rada-Iglesias, Alvaro (Author) , Kurian, Leo (Author) , Wollnik, Bernd (Author) , Bouazoune, Karim (Author) , Papantonis, Argyris (Author) ,


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  12. 12
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    SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity by Böhm, Volker (Author) , Kückelmann, Sabrina (Author) , Gerbracht, Jennifer V. (Author) , Kallabis, Sebastian (Author) , Britto-Borges, Thiago (Author) , Altmüller, Janine (Author) , Krüger, Marcus (Author) , Dieterich, Christoph (Author) , Gehring, Niels H. (Author) ,


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  13. 13
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    Single-cell transcriptome sequencing on the Nanopore platform with ScNapBar by Wang, Qi (Author) , Bönigk, Sven (Author) , Böhm, Volker (Author) , Gehring, Niels H. (Author) , Altmüller, Janine (Author) , Dieterich, Christoph (Author) ,


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  14. 14
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    A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover by Boileau, Etienne (Author) , Altmüller, Janine (Author) , Naarmann-de Vries, Isabel S. (Author) , Dieterich, Christoph (Author) ,


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  15. 15
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    Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies by Hackl, Agnes (Author) , Erger, Florian (Author) , Skerka, Christine (Author) , Wenzel, Andrea (Author) , Tschernoster, Nikoai (Author) , Ehren, Rasmus (Author) , Burgmaier, Kathrin (Author) , Riehmer, Vera (Author) , Licht, Christoph (Author) , Kirschfink, Michael (Author) , Weber, Lutz T. (Author) , Altmüller, Janine (Author) , Zipfel, Peter F. (Author) , Habbig, Sandra (Author) ,


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  16. 16
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    Association of germline variant status with therapy response in high-risk early-stage breast cancer: a secondary analysis of the geparOcto randomized clinical trial by Pohl-Rescigno, Esther (Author) , Hauke, Jan (Author) , Loibl, Sibylle (Author) , Möbus, Volker (Author) , Denkert, Carsten (Author) , Fasching, Peter A. (Author) , Kayali, Mohamad (Author) , Ernst, Corinna (Author) , Weber-Lassalle, Nana (Author) , Hanusch, Claus (Author) , Tesch, Hans (Author) , Müller, Volkmar (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Untch, Michael (Author) , Lübbe, Kristina (Author) , Nürnberg, Peter (Author) , Rhiem, Kerstin (Author) , Furlanetto, Jenny (Author) , Lederer, Bianca (Author) , Jackisch, Christian (Author) , Nekljudova, Valentina (Author) , Schmutzler, Rita K. (Author) , Schneeweiss, Andreas (Author) , Hahnen, Eric (Author) ,


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  17. 17
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    Intronic CRISPR repair in a preclinical model of Noonan Syndrome-Associated Cardiomyopathy by Hanses, Ulrich (Author) , Kleinsorge, Mandy (Author) , Roos, Lennart (Author) , Yigit, Gökhan (Author) , Li, Yun (Author) , Barbarics, Boris (Author) , El-Battrawy, Ibrahim (Author) , Lan, Huan (Author) , Tiburcy, Malte (Author) , Hindmarsh, Robin (Author) , Lenz, Christof (Author) , Salinas, Gabriela (Author) , Diecke, Sebastian (Author) , Müller, Christian (Author) , Adham, Ibrahim (Author) , Altmüller, Janine (Author) , Nürnberg, Peter (Author) , Paul, Thomas (Author) , Zimmermann, Wolfram-Hubertus (Author) , Hasenfuss, Gerd (Author) , Wollnik, Bernd (Author) , Cyganek, Lukas (Author) ,


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  18. 18
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    Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia by Dafsari, Hormos Salimi (Author) , Sprute, Rosanne (Author) , Wunderlich, Gilbert (Author) , Daimagüler, Hülya-Sevcan (Author) , Karaca, Ezgi (Author) , Contreras, Adriana (Author) , Becker, Kerstin (Author) , Schulze-Rhonhof, Mira (Author) , Kiening, Karl (Author) , Karakulak, Tülay (Author) , Kloss, Manja (Author) , Horn, Annette (Author) , Pauls, Amande (Author) , Nürnberg, Peter (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Assmann, Birgit (Author) , Koy, Anne (Author) , Cirak, Sebahattin (Author) ,


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  19. 19
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    Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia by Dafsari, Hormos Salimi (Author) , Sprute, Rosanne (Author) , Wunderlich, Gilbert (Author) , Daimagüler, Hülya-Sevcan (Author) , Karaca, Ezgi (Author) , Contreras, Adriana (Author) , Becker, Kerstin (Author) , Schulze-Rhonhof, Mira (Author) , Kiening, Karl (Author) , Karakulak, Tülay (Author) , Kloss, Manja (Author) , Horn, Annette (Author) , Pauls, Amande (Author) , Nürnberg, Peter (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Assmann, Birgit (Author) , Koy, Anne (Author) , Cirak, Sebahattin (Author) ,


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  20. 20
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    Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883) by Hauke, Jan (Author) , Hahnen, Eric (Author) , Schneider, Stephanie (Author) , Reuss, Alexander (Author) , Richters, Lisa (Author) , Kommoss, Stefan (Author) , Heimbach, André (Author) , Marmé, Frederik (Author) , Schmidt, Sandra (Author) , Prieske, Katharina (Author) , Gevensleben, Heidrun (Author) , Burges, Alexander (Author) , Borde, Julika (Author) , Gregorio, Nikolaus De (Author) , Nürnberg, Peter (Author) , El-Balat, Ahmed (Author) , Thiele, Holger (Author) , Hilpert, Felix (Author) , Altmüller, Janine (Author) , Meier, Werner (Author) , Dietrich, Dimo (Author) , Kimmig, Rainer (Author) , Schoemig-Markiefka, Birgid (Author) , Kast, Karin (Author) , Braicu, Elena (Author) , Baumann, Klaus (Author) , Jackisch, Christian (Author) , Park-Simon, Tjoung-Won (Author) , Ernst, Corinna (Author) , Hanker, Lars (Author) , Pfisterer, Jacobus (Author) , Schnelzer, Andreas (Author) , Bois, Andreas du (Author) , Schmutzler, Rita K. (Author) , Harter, Philipp (Author) ,


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