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Frauke Coppieters

Showing results (11-20 of 53) with videos related to

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Nature Communications|February 21, 2024
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease lociVictor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, et al.
Retina (Philadelphia, Pa.)|May 18, 2021
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUMJulie De Zaeytijd, Caroline Van Cauwenbergh, Marieke De Bruyne, et al.
Molecular Diagnosis & Therapy|May 28, 2022
Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing WorkflowGertjan Wils, Céline Helsmoortel, Pieter-Jan Volders, et al.
Clinical Pediatrics|September 28, 2017
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMFLevi Hoste, Frans De Baets, Sabine Van Daele, et al.
Human Mutation|January 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondSarah Naessens, Julie De Zaeytijd, Delfien Syx, et al.
Retina (Philadelphia, Pa.)|April 27, 2013
High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophyPieter-Paul Schauwvlieghe, Kara Della Torre, Frauke Coppieters, et al.
American Journal of Human Genetics|June 15, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters, Bart P Leroy, Diane Beysen, et al.
Ophthalmic Genetics|May 5, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the <i>C1QTNF5</i> geneJulie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, et al.
Retina (Philadelphia, Pa.)|February 2, 2011
Discordance for retinitis pigmentosa in two monozygotic twin pairsLieve V Berghmans, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2016
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentDorien Baetens, Hans Stoop, Frank Peelman, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
Nature Communications|February 21, 2024
Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease lociVictor Lopez Soriano, Alfredo Dueñas Rey, Rajarshi Mukherjee, et al.
Retina (Philadelphia, Pa.)|May 18, 2021
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUMJulie De Zaeytijd, Caroline Van Cauwenbergh, Marieke De Bruyne, et al.
Molecular Diagnosis & Therapy|May 28, 2022
Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing WorkflowGertjan Wils, Céline Helsmoortel, Pieter-Jan Volders, et al.
Clinical Pediatrics|September 28, 2017
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMFLevi Hoste, Frans De Baets, Sabine Van Daele, et al.
Human Mutation|January 23, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bondSarah Naessens, Julie De Zaeytijd, Delfien Syx, et al.
Retina (Philadelphia, Pa.)|April 27, 2013
High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophyPieter-Paul Schauwvlieghe, Kara Della Torre, Frauke Coppieters, et al.
American Journal of Human Genetics|June 15, 2007
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaFrauke Coppieters, Bart P Leroy, Diane Beysen, et al.
Ophthalmic Genetics|May 5, 2021
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the <i>C1QTNF5</i> geneJulie De Zaeytijd, Frauke Coppieters, Marieke De Bruyne, et al.
Retina (Philadelphia, Pa.)|February 2, 2011
Discordance for retinitis pigmentosa in two monozygotic twin pairsLieve V Berghmans, Regina Halfeld Furtado de Mendonça, Frauke Coppieters, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2016
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentDorien Baetens, Hans Stoop, Frank Peelman, et al.
Pageof 6