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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020		http://purl.org/ontology/bibo/Article
The repertoire of mutational signatures in human cancer 2020 . Alexandrov, Ludmil B. \| Kim, Jaegil \| Haradhvala, Nicholas J. \| Huang, Mi Ni \| Ng, Alvin Wei Tian \| Wu, Yang \| Boot, Arnoud \| Covington, Kyle R. \| Gordenin, Dmitry A. \| Bergstrom, Erik N. \| Islam, S. M. Ashiqul \| Lopez-Bigas, Nuria \| Klimczak, Leszek J. \| McPherson, John R. \| Morganella, Sandro \| Sabarinathan, Radhakrishnan \| Wheeler, David A. \| Mustonen, Ville \| Getz, Gad \| Rozen, Steven G. \| Stratton, Michael R. . PCAWG Mutational Signatures Working Group \| PCAWG Consortium	2020		http://purl.org/ontology/bibo/Article
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia 2020 . Osmanovic, Alma \| Widjaja, Maylin \| Förster, Alisa \| Weder, Julia \| Wattjes, Mike P. \| Lange, Inken \| Sarikidi, Anastasia \| Auber, Bernd \| Raab, Peter \| Christians, Anne \| Preller, Matthias \| Petri, Susanne \| Weber, Ruthild G.	2020		http://purl.org/ontology/bibo/Article
Validation and refinement of the revised 2017 European LeukemiaNet genetic risk stratification of acute myeloid leukemia 2020 . Herold, Tobias \| Rothenberg-Thurley, Maja \| Grunwald, Victoria V. \| Janke, Hanna \| Goerlich, Dennis \| Sauerland, Maria C. \| Konstandin, Nikola P. \| Dufour, Annika \| Schneider, Stephanie \| Neusser, Michaela \| Ksienzyk, Bianka \| Greif, Philipp A. \| Subklewe, Marion \| Faldum, Andreas \| Bohlander, Stefan \| Braess, Jan \| Wörmann, Bernhard \| Krug, Utz \| Berdel, Wolfgang E. \| Hiddemann, Wolfgang \| Spiekermann, Karsten \| Metzeler, Klaus	2020		http://purl.org/ontology/bibo/Article
IDH1/2 mutations in acute myeloid leukemia patients and risk of coronary artery disease and cardiac dysfunction—a retrospective propensity score analysis 2020 . Kattih, Badder \| Shirvani, Amir \| Klement, Piroska \| Garrido, Abel Martin \| Gabdoulline, Razif \| Liebich, Alessandro \| Brandes, Maximilian \| Chaturvedi, Anuhar \| Seeger, Timon \| Thol, Felicitas \| Göhring, Gudrun \| Schlegelberger, Brigitte \| Geffers, Robert \| John, David \| Bavendiek, Udo \| Bauersachs, Johann \| Ganser, Arnold \| Heineke, Joerg \| Heuser, Michael	2020		http://purl.org/ontology/bibo/Article
Analyses of non-coding somatic drivers in 2,658 cancer whole genomes 2020 . Rheinbay, Esther \| Nielsen, Morten Muhlig \| Abascal, Federico \| Wala, Jeremiah A. \| Shapira, Ofer \| Tiao, Grace \| Hornshøj, Henrik \| Hess, Julian M. \| Juul, Randi Istrup \| Lin, Ziao \| Feuerbach, Lars \| Sabarinathan, Radhakrishnan \| Madsen, Tobias \| Kim, Jaegil \| Mularoni, Loris \| Shuai, Shimin \| Lanzós, Andres \| Herrmann, Carl \| Maruvka, Yosef E. \| Shen, Ciyue \| Amin, Samirkumar B. \| Bandopadhayay, Pratiti \| Bertl, Johanna \| Boroevich, Keith A. \| . PCAWG Drivers and Functional Interpretation Working Group \| PCAWG Structural Variation Working Group \| PCAWG Consortium	2020		http://purl.org/ontology/bibo/Article
Emerging Targeted Therapeutics for Genetic Subtypes of Parkinsonism 2020 . Schneider, Susanne A. \| Hizli, Baccara \| Alcalay, Roy N.	2020		http://purl.org/ontology/bibo/Article
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis 2020 . Suwala, Abigail K. \| Stichel, Damian \| Schrimpf, Daniel \| Kloor, Matthias \| Wefers, Annika K. \| Reinhardt, Annekathrin \| Maas, Sybren L. N. \| Kratz, Christian P. \| Schweizer, Leonille \| Hasselblatt, Martin \| Snuderl, Matija \| Abedalthagafi, Malak Sameer J. \| Abdullaev, Zied \| Monoranu, Camelia M. \| Bergmann, Markus \| Pekrun, Arnulf \| Freyschlag, Christian \| Aronica, Eleonora \| Kramm, Christof M. \| Hinz, Felix \| Sievers, Philipp \| Korshunov, Andrey \| Kool, Marcel \| Pfister, Stefan M. \| Sturm, Dominik \| Jones, David T. W. \| Wick, Wolfgang \| Unterberg, Andreas \| Hartmann, Christian \| Dodgshun, Andrew \| Tabori, Uri \| Wesseling, Pieter \| Sahm, Felix \| von Deimling, Andreas \| Reuß, David	2020		http://purl.org/ontology/bibo/Article
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence 2020 . Bork, Konrad \| Machnig, Thomas \| Wulff, Karin \| Witzke, Guenther \| Prusty, Subhransu \| Hardt, Jochen	2020		http://purl.org/ontology/bibo/Article
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1 2020 . Sievers, Philipp \| Sill, Martin \| Blume, Christina \| Tauziede-Espariat, Arnault \| Schrimpf, Daniel \| Stichel, Damian \| Reuss, David E. \| Dogan, Helin \| Hartmann, Christian \| Mawrin, Christian \| Hasselblatt, Martin \| Stummer, Walter \| Schick, Uta \| Hench, Jürgen \| Frank, Stephan \| Ketter, Ralf \| Schweizer, Leonille \| Schittenhelm, Jens \| Puget, Stéphanie \| Brandner, Sebastian \| Jaunmuktane, Zane \| Küsters, Benno \| Abdullaev, Zied \| Pekmezci, Melike \| Snuderl, Matija \| Ratliff, Miriam \| Herold-Mende, Christel \| Unterberg, Andreas \| Aldape, Kenneth \| Ellison, David W. \| Wesseling, Pieter \| Reifenberger, Guido \| Wick, Wolfgang \| Perry, Arie \| Varlet, Pascale \| Pfister, Stefan M. \| Jones, David T. W. \| von Deimling, Andreas \| Sahm, Felix	2020		http://purl.org/ontology/bibo/Article

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