Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David C Kasper

Showing results (51-60 of 57) with videos related to

Pageof 6
Sort By:
You have reached the last page of results.This site can display upto 57 results.
Clinical Chemistry|July 21, 2011
Simplified newborn screening protocol for lysosomal storage disordersThomas F Metz, Thomas P Mechtler, Joseph J Orsini, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 6, 2012
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screeningThomas P Mechtler, Thomas F Metz, Hannes G Müller, et al.
Molecular Genetics and Metabolism|March 29, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatideSoumeya Bekri, Annette Bley, Heather A Brown, et al.
Human Mutation|August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Journal of Neurology|December 13, 2025
Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening programPhilipp Schmitt, Peggy Schumann, Alexander Koerbs, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|September 13, 2024
<i>SOD1</i> gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center programThomas Meyer, Peggy Schumann, Torsten Grehl, et al.
Pageof 6

Showing results (51-60 of 57) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Clinical Chemistry|July 21, 2011
Simplified newborn screening protocol for lysosomal storage disordersThomas F Metz, Thomas P Mechtler, Joseph J Orsini, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|November 6, 2012
Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screeningThomas P Mechtler, Thomas F Metz, Hannes G Müller, et al.
Molecular Genetics and Metabolism|March 29, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatideSoumeya Bekri, Annette Bley, Heather A Brown, et al.
Human Mutation|August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variantsAlessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Journal of Neurology|December 13, 2025
Motor phenotypes and neurofilament light chain in genetic amyotrophic lateral sclerosis-results from a multicenter screening programPhilipp Schmitt, Peggy Schumann, Alexander Koerbs, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|September 13, 2024
<i>SOD1</i> gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center programThomas Meyer, Peggy Schumann, Torsten Grehl, et al.
Pageof 6