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Orvosi Hetilap|November 19, 2019
[Verification results of objective newborn hearing screening]Anita Gáborján, Judit Götze, Marianna Küstel, et al.Proceedings of the National Academy of Sciences of the United States of America|June 20, 2020
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisEszter Balogh, Jennifer C Chandler, Máté Varga, et al.Pageof 1