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Frauke Coppieters

Showing results (21-30 of 53) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionKristof Van Schil, Françoise Meire, Marcus Karlstetter, et al.
Clinical Genetics|November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathyMiriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsCaroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2012
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosisFrauke Coppieters, Bram De Wilde, Steve Lefever, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Human Mutation|December 16, 2014
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practiceKim De Leeneer, Jan Hellemans, Wouter Steyaert, et al.
Frontiers in Immunology|May 8, 2023
Differential protease content of mast cells and the processing of IL-33 in <i>Alternaria alternata</i> induced allergic airway inflammation in miceOlga Krysko, Darya Korsakova, Andrea Teufelberger, et al.
Journal for Immunotherapy of Cancer|November 14, 2020
Vaccination with early ferroptotic cancer cells induces efficient antitumor immunityIuliia Efimova, Elena Catanzaro, Louis Van der Meeren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Cell Death & Disease|December 20, 2022
DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosisMaria Vedunova, Victoria Turubanova, Olga Vershinina, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

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Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 15, 2014
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletionKristof Van Schil, Françoise Meire, Marcus Karlstetter, et al.
Clinical Genetics|November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathyMiriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsCaroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2012
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosisFrauke Coppieters, Bram De Wilde, Steve Lefever, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
Human Mutation|December 16, 2014
Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practiceKim De Leeneer, Jan Hellemans, Wouter Steyaert, et al.
Frontiers in Immunology|May 8, 2023
Differential protease content of mast cells and the processing of IL-33 in <i>Alternaria alternata</i> induced allergic airway inflammation in miceOlga Krysko, Darya Korsakova, Andrea Teufelberger, et al.
Journal for Immunotherapy of Cancer|November 14, 2020
Vaccination with early ferroptotic cancer cells induces efficient antitumor immunityIuliia Efimova, Elena Catanzaro, Louis Van der Meeren, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 15, 2014
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophyFrauke Coppieters, Kristof Van Schil, Miriam Bauwens, et al.
Cell Death & Disease|December 20, 2022
DC vaccines loaded with glioma cells killed by photodynamic therapy induce Th17 anti-tumor immunity and provide a four-gene signature for glioma prognosisMaria Vedunova, Victoria Turubanova, Olga Vershinina, et al.
Pageof 6