Publications by authors named "Eva-Maria Rump"

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RAG recombinase expression discriminates the development of natural killer cells.
Jasmin Sprissler, Ulrich Pannicke, Eva-Maria Rump, Hubert Schrezenmeier, Nicolas Casadei

Front Immunol· August 2025

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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Jessica Eigemann, Ales Janda, Catharina Schuetz, Min Ae Lee-Kirsch, Ansgar Schulz, Eva-Maria Rump

J Clin Immunol· September 2024

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Deficiency of innate and acquired immunity caused by an IKBKB mutation.
Ulrich Pannicke, Bernd Baumann, Sebastian Fuchs, Philipp Henneke, Anne Rensing-Ehl, Eva-Maria Rump

N Engl J Med· December 2013

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Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Holger Cario, Desirée E C Smith, Henk Blom, Nenad Blau, Harald Bode, Eva-Maria Rump

Am J Hum Genet· February 2011

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The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Ulrich Pannicke, Manfred Hönig, Ilka Schulze, Jan Rohr, Gitta A Heinz, Eva-Maria Rump

Hum Mutat· February 2010

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Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Ulrich Pannicke, Manfred Hönig, Isabell Hess, Claudia Friesen, Karlheinz Holzmann, Eva-Maria Rump

Nat Genet· January 2009

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