Search Results - Elbracht, Miriam

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  1. 1
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    De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke by Brunet, Theresa (Author) , Zott, Benedikt (Author) , Lieftüchter, Victoria (Author) , Lenz, Dominic (Author) , Schmidt, Axel (Author) , Peters, Philipp (Author) , Kopajtich, Robert (Author) , Zaddach, Malin (Author) , Zimmermann, Hanna (Author) , Hüning, Irina (Author) , Ballhausen, Diana (Author) , Staufner, Christian (Author) , Bianzano, Alyssa (Author) , Hughes, Joanne (Author) , Taylor, Robert W. (Author) , McFarland, Robert (Author) , Devlin, Anita (Author) , Mihaljević, Mihaela (Author) , Barišić, Nina (Author) , Rohlfs, Meino (Author) , Wilfling, Sibylle (Author) , Sondheimer, Neal (Author) , Hewson, Stacy (Author) , Marinakis, Nikolaos M. (Author) , Kosma, Konstantina (Author) , Traeger-Synodinos, Joanne (Author) , Elbracht, Miriam (Author) , Begemann, Matthias (Author) , Trepels-Kottek, Sonja (Author) , Hasan, Dimah (Author) , Scala, Marcello (Author) , Capra, Valeria (Author) , Zara, Federico (Author) , van der Ven, Amelie T. (Author) , Driemeyer, Joenna (Author) , Apitz, Christian (Author) , Krämer, Johannes (Author) , Strong, Alanna (Author) , Hakonarson, Hakon (Author) , Watson, Deborah (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Meitinger, Thomas (Author) , Borggraefe, Ingo (Author) , Spiegler, Juliane (Author) , Baric, Ivo (Author) , Paolini, Marco (Author) , Gerstl, Lucia (Author) , Wagner, Matias (Author) ,


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  2. 2
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    Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study by Kastellan, Svenja (Author) , Kalb, Reinhard (Author) , Sajjad, Bia (Author) , McReynolds, Lisa J. (Author) , Giri, Neelam (Author) , Samuel, David (Author) , Milde, Till (Author) , Elbracht, Miriam (Author) , Holzhauer, Susanne (Author) , Niewisch, Marena R. (Author) , Kratz, Christian P. (Author) ,


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  3. 3
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    Humangenetische Diagnostik bei onkologischen Erkrankungen: Bedeutung von Tumorrisikosyndromen für Therapie und Prävention by Elbracht, Miriam (Author) , Auber, Bernd (Author) , Kurth, Ingo (Author) , Stenzinger, Albrecht (Author) , Schaaf, Christian P. (Author) , Schroeder, Christopher (Author) ,


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  4. 4
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    PHIP-associated Chung-Jansen syndrome: report of 23 new individuals by Kampmeier, Antje (Author) , Leitão, Elsa (Author) , Parenti, Ilaria (Author) , Beygo, Jasmin (Author) , Depienne, Christel (Author) , Bramswig, Nuria C (Author) , Hsieh, Tzung-Chien (Author) , Afenjar, Alexandra (Author) , Beck-Wödl, Stefanie (Author) , Grasshoff, Ute (Author) , Haack, Tobias B (Author) , Bijlsma, Emilia K (Author) , Ruivenkamp, Claudia (Author) , Lausberg, Eva (Author) , Elbracht, Miriam (Author) , Haanpää, Maria K (Author) , Koillinen, Hannele (Author) , Heinrich, Uwe (Author) , Rost, Imma (Author) , Jamra, Rami Abou (Author) , Popp, Denny (Author) , Koch-Hogrebe, Margarete (Author) , Rostasy, Kevin (Author) , López-González, Vanesa (Author) , Sanchez-Soler, María José (Author) , Macedo, Catarina (Author) , Schmetz, Ariane (Author) , Steinborn, Carmen (Author) , Weidensee, Sabine (Author) , Lesmann, Hellen (Author) , Marbach, Felix (Author) , Caro, Pilar (Author) , Schaaf, Christian P. (Author) , Krawitz, Peter (Author) , Wieczorek, Dagmar (Author) , Kaiser, Frank J (Author) , Kuechler, Alma (Author) ,


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  5. 5
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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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  6. 6
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    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation by Lausberg, Eva (Author) , Gießelmann, Sebastian (Author) , Dewulf, Joseph P. (Author) , Wiame, Elsa (Author) , Holz, Anja (Author) , Salvarinova, Ramona (Author) , Karnebeek, Clara D. van (Author) , Klemm, Patricia (Author) , Ohl, Kim (Author) , Mull, Michael (Author) , Braunschweig, Till (Author) , Weis, Joachim (Author) , Sommer, Clemens J. (Author) , Demuth, Stephanie (Author) , Haase, Claudia (Author) , Stollbrink-Peschgens, Claudia (Author) , Debray, François-Guillaume (Author) , Libioulle, Cecile (Author) , Choukair, Daniela (Author) , Oommen, Prasad T. (Author) , Borkhardt, Arndt (Author) , Surowy, Harald (Author) , Wieczorek, Dagmar (Author) , Wagner, Norbert (Author) , Meyer, Robert (Author) , Eggermann, Thomas (Author) , Begemann, Matthias (Author) , Schaftingen, Emile Van (Author) , Häusler, Martin (Author) , Tenbrock, Klaus (Author) , Heuvel, Lambert van den (Author) , Elbracht, Miriam (Author) , Kurth, Ingo (Author) , Kraft, Florian (Author) ,


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  7. 7
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    Germline GPR161 mutations predispose to pediatric medulloblastoma by Begemann, Matthias (Author) , Waszak, Sebastian M. (Author) , Robinson, Giles W. (Author) , Jäger, Natalie (Author) , Sharma, Tanvi (Author) , Knopp, Cordula (Author) , Kraft, Florian (Author) , Moser, Olga (Author) , Mynarek, Martin (Author) , Guerrini-Rousseau, Lea (Author) , Brugieres, Laurence (Author) , Varlet, Pascale (Author) , Pietsch, Torsten (Author) , Bowers, Daniel C. (Author) , Chintagumpala, Murali (Author) , Sahm, Felix (Author) , Korbel, Jan Oliver (Author) , Rutkowski, Stefan (Author) , Eggermann, Thomas (Author) , Gajjar, Amar (Author) , Northcott, Paul (Author) , Elbracht, Miriam (Author) , Pfister, Stefan (Author) , Kontny, Udo (Author) , Kurth, Ingo (Author) ,


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