未登录 Making sense of missense variants in TTN-related congenital myopathies 了解TTN相关先天性肌病的错义变异 Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias 分享 收藏
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; van der Kooi, A. J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Diaz-Manera, Jordi 分享 收藏
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Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients Tuerk, Matthias; Schroeder, Rolf; Khuller, Katharina; Hofmann, Andreas; Berwanger, Carolin; Ludolph, Albert C.; Dekomien, Gabriele; Mueller, Kathrin; Weishaupt, Jochen H.; Thiel, Christian T.; Clemen, Christoph S. 分享 收藏
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement Unger, Andreas; Dekomien, Gabriele; Guettsches, Anne; Dreps, Thomas; Kley, Rudolf; Tegenthoff, Martin; Ferbert, Andreas; Weis, Joachim; Heyer, Christoph; Linke, Wolfgang A.; Martinez-Carrera, Lilian; Storbeck, Markus; Wirth, Brunhilde; Hoffjan, Sabine; Vorgerd, Matthias 分享 收藏
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families Kastner, Simone; Thiemann, Ina-Janine; Dekomien, Gabriele; Petrasch-Parwez, Elisabeth; Schreiber, Sabrina; Akkad, Denis A.; Gerding, Wanda M.; Hoffjan, Sabine; Gunes, Sezgin; Gunes, Selcuk; Bagci, Hasan; Epplen, Joerg T. 分享 收藏
Smaller caliber renal arteries are a novel feature of uromodulin-associated kidney disease Prejbisz, Aleksander; Sellin, Lorenz; Szwench-Pietrasz, Elzbieta; Woznowski, Magdalena; Michalowska, Ilona; Blondin, Dirk; Sajnaga, Dariusz; Epplen, Jorg T.; Litwin, Mieczyslaw; Dekomien, Gabriele; Januszewicz, Magdalena; Helmchen, Udo; Matuszkiewicz-Rowinska, Joanna; Adamczak, Marcin; Wiecek, Andrzej; Januszewicz, Andrzej; Rump, Lars C. 分享 收藏
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Ccdc66 null mutation causes retinal degeneration and dysfunction Gerding, Wanda M.; Schreiber, Sabrina; Schulte-Middelmann, Tobias; Marques, Andreia de Castro; Atorf, Jenny; Akkad, Denis A.; Dekomien, Gabriele; Kremers, Jan; Dermietzel, Rolf; Gal, Andreas; Ruelicke, Thomas; Ibrahim, Saleh; Epplen, Joerg T.; Petrasch-Parwez, Elisabeth 分享 收藏
New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype Delnooz, C. C. S.; Lefeber, D. J.; Langemeijer, S. M. C.; Hoffjan, S.; Dekomien, G.; Zwarts, M. J.; Van Engelen, B. G. M.; Wevers, R. A.; Schelhaas, H. J.; van de Warrenburg, B. P. C. 分享 收藏
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? Bauer, Ralf; Hudson, Judith; Mueller, Harald D.; Sommer, Clemens; Dekomien, Gabriele; Bourke, John; Routledge, Daniel; Bushby, Kate; Klepper, Joerg; Straub, Volker 分享 收藏
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Electrophoresis of DNA in human genetic diagnostics -: state-of-the-art, alternatives and future prospects Gödde, R; Akkad, DA; Arning, L; Dekomien, G; Herchenbach, J; Kunstmann, E; Meins, M; Wieczorek, S; Epplen, JT; Hoffjlan, S 分享 收藏
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