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    Genome Sequencing for Diagnosing Rare Diseases von Wojcik, Monica H., Lemire, Gabrielle, Berger, Eva, Zaki, Maha S., Wissmann, Mariel, Win, Wathone, White, Susan M., Weisburd, Ben, Wieczorek, Dagmar, Waddell, Leigh B., Verboon, Jeffrey M., VanNoy, Grace E., Töpf, Ana, Tan, Tiong Yang, Syrbe, Steffen, Strehlow, Vincent, Straub, Volker, Stenton, Sarah L., Snow, Hana, Singer-Berk, Moriel, Silver, Josh, Shril, Shirlee, Seaby, Eleanor G., Schneider, Ronen, Sankaran, Vijay G., Sanchis-Juan, Alba, Russell, Kathryn A., Reinson, Karit, Ravenscroft, Gianina, Radtke, Maximilian, Popp, Denny, Polster, Tilman, Platzer, Konrad, Pierce, Eric A., Place, Emily M., Pajusalu, Sander, Pais, Lynn, Õunap, Katrin, Osei-Owusu, Ikeoluwa, Opperman, Henry, Okur, Volkan, Oja, Kaisa Teele, O’Leary, Melanie, O’Heir, Emily, Morel, Chantal F., Merkenschlager, Andreas, Marchant, Rhett G., Mangilog, Brian E., Madden, Jill A., MacArthur, Daniel, Lovgren, Alysia, Lerner-Ellis, Jordan P., Lin, Jasmine, Laing, Nigel, Hildebrandt, Friedhelm, Hentschel, Julia, Groopman, Emily, Goodrich, Julia, Gleeson, Joseph G., Ghaoui, Roula, Genetti, Casie A., Gburek-Augustat, Janina, Gazda, Hanna T., Ganesh, Vijay S., Ganapathi, Mythily, Gallacher, Lyndon, Fu, Jack M., Evangelista, Emily, England, Eleina, Donkervoort, Sandra, DiTroia, Stephanie, Cooper, Sandra T., Chung, Wendy K., Christodoulou, John, Chao, Katherine R., Cato, Liam D., Bujakowska, Kinga M., Bryen, Samantha J., Brand, Harrison, Bönnemann, Carsten G., Beggs, Alan H., Baxter, Samantha M., Bartolomaeus, Tobias, Agrawal, Pankaj B., Talkowski, Michael, Austin-Tse, Christina, Abou Jamra, Rami, Rehm, Heidi L., O’Donnell-Luria, Anne


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    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy von Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

    Veröffentlicht in Nature genetics

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