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Pregnancy and delivery after functional hemispherectomy for Rasmussen’s encephalitis: a case report

2024 . Jost, Elena | Merz, Waltraut M. | Kupczyk, Patrick A. | Tascón Padrón, Laura | Weber, Eva C. | Bien, Christian G. | Kosian, Philipp

The parent and family impact of CLN3 disease: an observational survey-based study

2024 . Schulz, Angela | Patel, Nita | Brudvig, Jon J. | Stehr, Frank | Weimer, Jill M. | Augustine, Erika F.

Real-world evidence for coverage determination of treatments for rare diseases

2024 . Dayer, Victoria | Drummond, Michael F. | Dabbous, Omar | Toumi, Mondher | Neumann, Peter | Tunis, Sean | Teich, Nelson | Saleh, Shadi | Persson, Ulf | von der Schulenburg, Johann-Matthias Graf | Malone, Daniel C. | Salimullah, Tay | Sullivan, Sean D.

Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations

2024 . Lebeda, Dennis | Fierenz, Adrian | Werfel, Lina | Rosin-Arbesfeld, Rina | Hofhuis, Julia | Thoms, Sven

Hirnabszess als Komplikation bei pulmonaler Manifestation einer HHT

2023 . Müller, May Cathleen | Weiler-Normann, Christina | Meyer, Mathias | Schramm, Christoph | Buescher, Gustav

Medical students’ knowledge on cancer predisposition syndromes and attitude toward eHealth

2023 . Nees, Juliane | Silchmüller, Farina Josepha | Schott, Sarah

Parent–child-agreement on health-related quality of life and its determinants in patients born with Esophageal Atresia: a Swedish–German cross-sectional study

2021 . Witt, Stefanie | Dellenmark-Blom, Michaela | Kuckuck, Susanne | Dingemann, Jens | Abrahamsson, Kate | Dingemann, Carmen | Chaplin, John Eric | Ure, Benno | Bullinger, Monika | Gatzinsky, Vladimir | Jönsson, Linus | Quitmann, Julia Hannah

Dental implants in patients suffering from systemic sclerosis: a retrospective analysis of clinical outcomes in a case series with 24 patients

2021 . Jackowski, Jochen | Strietzel, Frank Peter | Hunzelmann, Nicolas | Parwani, Parwana | Jackowski, Angelika | Benz, Korbinian

Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis

2020 . Bender, Tim T. A. | Leyens, Judith | Sellin, Julia | Kravchenko, Dmitrij | Conrad, Rupert | Dr. Mücke, Martin | Seidel, Matthias F.

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

2020 . Donald, Aimee | Tan, Chong Y. | Chakrapani, Anupam | Hughes, Derralyn A. | Sharma, Reena | Cole, Duncan | Bardins, Stanislav | Gorges, Martin | Jones, Simon A. | Schneider, Erich

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