Search Results - "Philipsen, Maria"
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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
Published in American journal of respiratory cell and molecular biology (01-03-2020)“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal nitric oxide…”
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Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection
Published in The European respiratory journal (01-06-2018)“…Nasal nitric oxide (NO) discriminates between patients with primary ciliary dyskinesia (PCD) and healthy individuals. We report feasibility of measurement and…”
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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Published in American journal of human genetics (03-05-2018)“…Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of…”
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Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Published in American journal of human genetics (01-10-2015)“…Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders…”
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Exploring the effects of intermittent aeration on the performance of nitrifying membrane-aerated biofilm reactors
Published in The Science of the total environment (15-09-2023)“…Membrane-aerated biofilm reactors (MABRs) are an emerging technology for nutrient removal; however, a trade-off remains between their removal rate and oxygen…”
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