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Journal
Mutation research, ISSN 0027-5107, 1964
Journal
Journal Article
PloS one, ISSN 1932-6203, 2017, Volume 12, Issue 5, p. e0178275
[This corrects the article DOI: 10.1371/journal.pone.0173345.]. 
Mutation
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 631
BackgroundSystemic sclerosis (SSc) is a prototypic systemic fibrotic disease with unclearly characterized genetic basis. Implicated genes have been associated... 
Mutation
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 716
BackgroundRecommended colchicine dose in familial mediterranean fever (FMF) is 1–1.5 mg/day in adults. If necessary it can be increased up to 3 mg/day by... 
Mutation
Journal Article
by Gröbner, Susanne N and Worst, Barbara C and Weischenfeldt, Joachim and Buchhalter, Ivo and Kleinheinz, Kortine and Rudneva, Vasilisa A and Johann, Pascal D and Balasubramanian, Gnana Prakash and Segura-Wang, Maia and Brabetz, Sebastian and Bender, Sebastian and Hutter, Barbara and Sturm, Dominik and Pfaff, Elke and Hübschmann, Daniel and Zipprich, Gideon and Heinold, Michael and Eils, Jürgen and Lawerenz, Christian and Erkek, Serap and Lambo, Sander and Waszak, Sebastian and Blattmann, Claudia and Borkhardt, Arndt and Kuhlen, Michaela and Eggert, Angelika and Fulda, Simone and Gessler, Manfred and Wegert, Jenny and Kappler, Roland and Baumhoer, Daniel and Burdach, Stefan and Kirschner-Schwabe, Renate and Kontny, Udo and Kulozik, Andreas E and Lohmann, Dietmar and Hettmer, Simone and Eckert, Cornelia and Bielack, Stefan and Nathrath, Michaela and Niemeyer, Charlotte and Richter, Günther H and Schulte, Johannes and Siebert, Reiner and Westermann, Frank and Molenaar, Jan J and Vassal, Gilles and Witt, Hendrik and Burkhardt, Birgit and Kratz, Christian P and Witt, Olaf and van Tilburg, Cornelis M and Kramm, Christof M and Fleischhack, Gudrun and Dirksen, Uta and Rutkowski, Stefan and Frühwald, Michael and von Hoff, Katja and Wolf, Stephan and Klingebiel, Thomas and Koscielniak, Ewa and Landgraf, Pablo and Koster, Jan and Resnick, Adam C and Zhang, Jinghui and Liu, Yanling and Zhou, Xin and Waanders, Angela J and Zwijnenburg, Danny A and Raman, Pichai and Brors, Benedikt and Weber, Ursula D and Northcott, Paul A and Pajtler, Kristian W and Kool, Marcel and Piro, Rosario M and Korbel, Jan O and Schlesner, Matthias and Eils, Roland and Jones, David T. W and Lichter, Peter and Chavez, Lukas and Zapatka, Marc and Pfister, Stefan M and ICGC PedBrain-Seq Project ICGC and ICGC MMML-Seq Project and ICGC PedBrain-Seq Project
Nature (London), ISSN 1476-4687, 2018, Volume 555, Issue 7696, pp. 321 - 327
Journal Article
Nature (London), ISSN 1476-4687, 2013, Volume 502, Issue 7471, pp. 333 - 339
Journal Article