Fachrepositorium Lebenswissenschaften

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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

2020 . Cortes Ciriano, Isidro | Lee, June-Koo | Xi, Ruibin | Jain, Dhawal | Jung, Youngsook L. | Yang, Lixing | Gordenin, Dmitry | Klimczak, Les | Zhang, Cheng-Zhong | Pellman, David S. | Park, Peter . PCAWG Structural Variation Working Group | PCAWG Consortium

EGFRvIII upregulates DNA mismatch repair resulting in increased temozolomide sensitivity of MGMT promoter methylated glioblastoma

Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma

2020 . Reutter, Katrin | Sandmann, Sarah | Rohde, Jonas | Müller, Stephanie | Wöste, Marius | Khanam, Tasneem | Michgehl, Ulf | Klapper, Wolfram | Wößmann, Wilhelm | Seggewiß, Jochen | Lenz, Georg | Dugas, Martin | Burkhardt, Birgit

A novel positive feedback-loop between the HTLV-1 oncoprotein Tax and NF-κB activity in T-cells

2020 . Millen, Sebastian | Meretuk, Lina | Göttlicher, Tim | Schmitt, Sarah | Fleckenstein, Bernhard | Thoma-Kress, Andrea K.

Post-mortem genetic investigation of cardiac disease–associated genes in sudden infant death syndrome (SIDS) cases

2020 . Köffer, Jasmin | Scheiper-Welling, Stefanie | Verhoff, Marcel A. | Bajanowski, Thomas | Kauferstein, Silke

Safety and efficacy of BAY1436032 in IDH1-mutant AML: phase I study results

Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential

2020 . Meixner, Iris | Hagl, Beate | Kröner, Carolin I. | Spielberger, Benedikt D. | Paschos, Ekaterini | Dückers, Gregor | Niehues, Tim | Hesse, Ronny | Renner, Ellen

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

2020 . Key, Jana | Maletzko, Antonia | Kohli, Aneesha | Gispert, Suzana | Torres-Odio, Sylvia | Wittig, Ilka | Heidler, Juliana | Bárcena, Clea | López-Otín, Carlos | Lei, Yuanjiu | West, A. Phillip | Münch, Christian | Auburger, Georg

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