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Frauke Coppieters

Showing results (31-40 of 53) with videos related to

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Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, 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.
Scientific Reports|June 18, 2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromesDelfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosaTamar Hayman, Shai Ovadia, Jaya Krishnan, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, 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.
Scientific Reports|June 18, 2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromesDelfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, et al.
Investigative Ophthalmology & Visual Science|February 14, 2015
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile NystagmusBasamat AlMoallem, Miriam Bauwens, Sophie Walraedt, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2025
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosaTamar Hayman, Shai Ovadia, Jaya Krishnan, et al.
Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.
Genome Research|March 4, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approachesMerel Stemerdink, Tabea Riepe, Nick Zomer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Pageof 6