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Astrid S Plomp

Showing results (31-40 of 48) with videos related to

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Investigative Ophthalmology & Visual Science|March 27, 2019
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease SpectrumSanne K Verbakel, Ramon A C van Huet, Anneke I den Hollander, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Investigative Ophthalmology & Visual Science|August 27, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 ConsortiumPam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Pageof 5

Showing results (31-40 of 48) with videos related to

Sort By:
Pageof 5
Investigative Ophthalmology & Visual Science|March 27, 2019
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease SpectrumSanne K Verbakel, Ramon A C van Huet, Anneke I den Hollander, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Investigative Ophthalmology & Visual Science|July 5, 2018
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe VariantsEsmee H Runhart, Riccardo Sangermano, Stéphanie S Cornelis, et al.
European Journal of Human Genetics : EJHG|February 23, 2017
Diagnostic exome sequencing in 266 Dutch patients with visual impairmentLonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, et al.
Investigative Ophthalmology & Visual Science|August 27, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 ConsortiumPam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2022
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genesSuzanne E de Bruijn, Kim Rodenburg, Jordi Corominas, et al.
Brain : a Journal of Neurology|November 26, 2020
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disordersFanny Mochel, Agnès Rastetter, Berten Ceulemans, et al.
European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
Pageof 5