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Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?

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Petrides PE, Klein M, Schuhmann E, Torkler H, Molitor B, Loehr C, Obermeier Z, Beykirch MK. Annals of hematology. 2021.
Zur Publikation

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Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

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Vill K, Schwartz O, Blaschek A, Gläser D, Nennstiel U, Wirth B, Burggraf S, Röschinger W, Becker M, Czibere L, Durner J, Eggermann K, Olgemöller B, Harms E, Schara U, Kölbel H, Müller-Felber W. Orphanet J Rare Dis. 2021 Mar 31;16(1):153.
Zur Publikation

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Fast and cost-effective screening for SARS-CoV-2 variants in a routine diagnostic setting.

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Durner J, Burggraf S, Czibere L, Tehrani A, Watts DC, Becker M. Dental Materials. 2021.
Zur Publikation

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Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?

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Muller-Felber W, Vill K, Schwartz O, Glaser D, Nennstiel U, Wirth B, et al. Journal of neuromuscular diseases. 2020;7:109-17.
Zur Publikation

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An alternate methodology for studying diffusion and elution kinetics of dimethacrylate monomers through dentinal tubules.

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Durner J, Schrickel K, Watts DC, Becker M, Hickel R, Draenert ME. Dental Materials. 2020;36:479-90.
Zur Publikation

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Critical Questions when Interpreting Coronavirus PCR Diagnostics.

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Durner J, Burggraf S, Czibere L, Fleige T, Spannagel M, Watts DC, et al. medRxiv. 2020:2020.06.11.20127241.
Zur Publikation

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Fast and simple high-throughput testing of COVID 19.

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Durner J, Burggraf S, Czibere L, Fleige T, Madejska A, Watts DC, et al. Dental Materials. 2020.
Zur Publikation

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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

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Czibere L, Burggraf S, Fleige T, Gluck B, Keitel LM, Landt O, et al. Eur J Hum Genet. 2020;28:23-30.
Zur Publikation

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One Year of Newborn Screening for SMA - Results of a German Pilot Project.

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Vill K, Kolbel H, Schwartz O, Blaschek A, Olgemoller B, Harms E, et al. Journal of neuromuscular diseases. 2019;6:503-15.
Zur Publikation

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Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.

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Fleige T, Burggraf S, Czibere L, Haring J, Gluck B, Keitel LM, et al. Eur J Hum Genet. 2019.
Zur Publikation

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Laboratory information system and necessary improvements in function and programming.

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Kammergruber R, Durner J. Journal of Laboratory Medicine. 2018;42:277-87.
Zur Publikation

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New perspectives on existing data in comparative measurements: a simple extension of the regression analysis.

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Durner J, Spannagl M. Clin Chem Lab Med. 2017.
Zur Publikation