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European Journal of Human Genetics : EJHG|October 2, 2019
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosisTobias Fleige, Siegfried Burggraf, Ludwig Czibere, et al.Molecular Genetics and Metabolism Reports|October 24, 2019
Molecular based newborn screening in Germany: Follow-up for cystinosisKatharina Hohenfellner, Carsten Bergmann, Tobias Fleige, et al.European Journal of Human Genetics : EJHG|August 1, 2019
High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCRLudwig Czibere, Siegfried Burggraf, Tobias Fleige, et al.Klinische Padiatrie|September 25, 2023
High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screenJoachim Janda, Sebastian Hegert, Jessica Bzdok, et al.Orphanet Journal of Rare Diseases|April 1, 2021
Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 yearsKatharina Vill, Oliver Schwartz, Astrid Blaschek, et al.Journal of Neuromuscular Diseases|March 8, 2020
Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?Wolfgang Müller-Felber, Katharina Vill, Oliver Schwartz, et al.Journal of Neuromuscular Diseases|October 10, 2019
One Year of Newborn Screening for SMA - Results of a German Pilot ProjectKatharina Vill, Heike Kölbel, Oliver Schwartz, et al.Journal of Neuromuscular Diseases|December 4, 2022
Newbornscreening SMA - From Pilot Project to Nationwide Screening in GermanyWolfgang Müller-Felber, Astrid Blaschek, Oliver Schwartz, et al.Pageof 2