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Astrid S Plomp

Showing results (21-30 of 48) with videos related to

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Investigative Ophthalmology & Visual Science|November 19, 2014
The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseasesRamon A C van Huet, Clasien J Oomen, Astrid S Plomp, et al.
Retina (Philadelphia, Pa.)|July 6, 2016
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual VariabilityInge B Mathijssen, Ralph J Florijn, L Ingeborgh van den Born, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
Human Molecular Genetics|April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndromeIliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Plos Genetics|August 18, 2025
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severityYousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio, et al.
Human Molecular Genetics|May 8, 2007
L1 retrotransposition can occur early in human embryonic developmentJosé A J M van den Hurk, Iwan C Meij, Maria del Carmen Seleme, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Pageof 5

Showing results (21-30 of 48) with videos related to

Sort By:
Pageof 5
Investigative Ophthalmology & Visual Science|November 19, 2014
The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseasesRamon A C van Huet, Clasien J Oomen, Astrid S Plomp, et al.
Retina (Philadelphia, Pa.)|July 6, 2016
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual VariabilityInge B Mathijssen, Ralph J Florijn, L Ingeborgh van den Born, et al.
Orphanet Journal of Rare Diseases|February 28, 2013
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneitySmail Hadj-Rabia, Bert L Callewaert, Emmanuelle Bourrat, et al.
Human Molecular Genetics|April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndromeIliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Plos Genetics|August 18, 2025
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severityYousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio, et al.
Human Molecular Genetics|May 8, 2007
L1 retrotransposition can occur early in human embryonic developmentJosé A J M van den Hurk, Iwan C Meij, Maria del Carmen Seleme, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Pageof 5