Severe homocysteinemia in two givosiran-treated porphyria patients: is free heme deficiency the culprit?
Petrides PE, Klein M, Schuhmann E, Torkler H, Molitor B, Loehr C, Obermeier Z, Beykirch MK.
Annals of hematology. 2021.
Zur Publikation
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
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
Fast and cost-effective screening for SARS-CoV-2 variants in a routine diagnostic setting.
Durner J, Burggraf S, Czibere L, Tehrani A, Watts DC, Becker M.
Dental Materials. 2021.
Zur Publikation
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
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
An alternate methodology for studying diffusion and elution kinetics of dimethacrylate monomers through dentinal tubules.
Durner J, Schrickel K, Watts DC, Becker M, Hickel R, Draenert ME.
Dental Materials. 2020;36:479-90.
Zur Publikation
Critical Questions when Interpreting Coronavirus PCR Diagnostics.
Durner J, Burggraf S, Czibere L, Fleige T, Spannagel M, Watts DC, et al.
medRxiv. 2020:2020.06.11.20127241.
Zur Publikation
Fast and simple high-throughput testing of COVID 19.
Durner J, Burggraf S, Czibere L, Fleige T, Madejska A, Watts DC, et al.
Dental Materials. 2020.
Zur Publikation
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.
Czibere L, Burggraf S, Fleige T, Gluck B, Keitel LM, Landt O, et al.
Eur J Hum Genet. 2020;28:23-30.
Zur Publikation
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kolbel H, Schwartz O, Blaschek A, Olgemoller B, Harms E, et al.
Journal of neuromuscular diseases. 2019;6:503-15.
Zur Publikation
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.