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Biopsychosoziales Betreuungskonzept für Kinder mit X‑chromosomaler Hypophosphatämie (XLH)

2020 . Schnabel, Dirk

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients

2020 . Vereb, Noemi | Montagnese, Federica | Gläser, Dieter | Schoser, Benedikt

Durable remission with ruxolitinib in a chronic neutrophilic leukemia patient harboring a truncation and membrane proximal CSF3R compound mutation

2020 . Hinze, Anna | Rinke, Jenny | Hochhaus, Andreas | Ernst, Thomas

Drug repurposing using transcriptome sequencing and virtual drug screening in a patient with glioblastoma

2020 . Saeed, Mohamed E. M. | Kadioglu, Onat | Greten, Henry Johannes | Yildirim, Adem | Mayr, Katharina | Wenz, Frederik | Giordano, Frank A. | Efferth, Thomas

MDR M. tuberculosis outbreak clone in Eswatini missed by Xpert has elevated bedaquiline resistance dated to the pre-treatment era

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

2020 . Le Duc, Diana | Hentschel, Julia | Neuser, Sonja | Stiller, Mathias | Meier, Carolin | Jäger, Elisabeth | Abou Jamra, Rami | Platzer, Konrad | Monecke, Astrid | Ziemer, Mirjana | Markovic, Aleksander | Bläker, Hendrik | Lemke, Johannes

Bortezomib resistance mutations in PSMB5 determine response to second-generation proteasome inhibitors in multiple myeloma

2020 . Allmeroth, Kira | Horn, Moritz | Kroef, Virginia | Miethe, Stephan | Mueller, Roman-Ulrich | Denzel, Martin

Leber’s hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation

2020 . Tonagel, Felix | Wilhelm, Helmut | Richter, Paul | Kelbsch, Carina

Synthesis and in vitro characterization of the genotoxic, mutagenic and cell-transforming potential of nitrosylated heme

2020 . Kostka, Tina | Fohrer, Jörg | Guigas, Claudia | Briviba, Karlis | Seiwert, Nina | Fahrer, Jörg | Steinberg, Pablo | Empl, Michael T.

Comparative genomic profiling of glandular bladder tumours

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