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LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
2021 - Forschungsinformationssystem des UKE
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation
2021 - Forschungsinformationssystem des UKE
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function
2013 - Forschungsinformationssystem des UKE
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
2012 - Forschungsinformationssystem des UKE