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Fanny Depasse

Showing results (1-10 of 10) with videos related to

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Exploratory Research in Clinical and Social Pharmacy|March 17, 2025
The impact of simulated visual impairment on medication use process: A study with healthy volunteersThéodora Merenda, Fanny Depasse, Stéphanie Patris
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 5, 2005
Mapping labels in the human developing visual system and the evolution of binocular visionMarie-Alexandra Lambot, Fanny Depasse, Jean-Christophe Noel, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucomaJulie Désir, Yves Sznajer, Fanny Depasse, et al.
Molecular Vision|August 19, 2011
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genesFrançoise Meire, Isabelle Delpierre, Cecile Brachet, et al.
Scientific Reports|February 19, 2016
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 14, 2014
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndromeFrançoise M J Roulez, Fran Faes, Patricia Delbeke, 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.
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.
Plos One|January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesCaroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Exploratory Research in Clinical and Social Pharmacy|March 17, 2025
The impact of simulated visual impairment on medication use process: A study with healthy volunteersThéodora Merenda, Fanny Depasse, Stéphanie Patris
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|August 5, 2005
Mapping labels in the human developing visual system and the evolution of binocular visionMarie-Alexandra Lambot, Fanny Depasse, Jean-Christophe Noel, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucomaJulie Désir, Yves Sznajer, Fanny Depasse, et al.
Molecular Vision|August 19, 2011
Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genesFrançoise Meire, Isabelle Delpierre, Cecile Brachet, et al.
Scientific Reports|February 19, 2016
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Kristof Van Schil, Marcus Karlstetter, Alexander Aslanidis, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 14, 2014
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndromeFrançoise M J Roulez, Fran Faes, Patricia Delbeke, 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.
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.
Plos One|January 12, 2017
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesCaroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
Pageof 1