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Ingele Casteels

Showing results (71-80 of 85) with videos related to

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Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, 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.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, 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.
Rheumatology (Oxford, England)|November 23, 2014
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomesCarlos D Rosé, Steven Pans, Ingele Casteels, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
American Journal of Ophthalmology|September 10, 2017
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case SeriesInge L Sarens, Ingele Casteels, Jordi Anton, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Scientific Reports|January 30, 2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56Basamat Almoallem, Gavin Arno, Julie De Zaeytijd, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, 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.
The Journal of Allergy and Clinical Immunology|February 3, 2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndromeJessica Heremans, Josselyn E Garcia-Perez, Ernest Turro, et al.
Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, 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.
Rheumatology (Oxford, England)|November 23, 2014
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomesCarlos D Rosé, Steven Pans, Ingele Casteels, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformationsBarbara D'haene, Françoise Meire, Ilse Claerhout, et al.
Investigative Ophthalmology & Visual Science|March 1, 2006
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer, Bart P Leroy, Elfride De Baere, et al.
American Journal of Ophthalmology|September 10, 2017
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case SeriesInge L Sarens, Ingele Casteels, Jordi Anton, et al.
Pageof 9