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Samuel Koller

Showing results (11-20 of 30) with videos related to

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European Journal of Immunology|April 13, 2007
Identification and characterization of a novel antigen from the nematode Nippostrongylus brasiliensis recognized by specific IgEVeronika Pochanke, Samuel Koller, Régine Dayer, et al.
International Journal of Molecular Sciences|September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy GenesJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|January 8, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> AlleleJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|April 28, 2023
Functional Analysis of a Novel, Non-Canonical <i>RPGR</i> Splice Variant Causing X-Linked Retinitis PigmentosaSamuel Koller, Tim Beltraminelli, Jordi Maggi, et al.
Investigative Ophthalmology & Visual Science|July 2, 2019
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis PigmentosaChristina Gerth-Kahlert, Samuel Koller, James V M Hanson, et al.
International Journal of Molecular Sciences|December 19, 2020
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South IndiaDinesh Kumar Kandaswamy, Makarla Venkata Sathya Prakash, Jochen Graw, et al.
International Journal of Molecular Sciences|February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal DiseasesJordi Maggi, Samuel Koller, Luzy Bähr, et al.
International Journal of Molecular Sciences|July 9, 2022
Homozygosity for a Novel <i>DOCK7</i> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual ImpairmentFatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, et al.
Blood Advances|November 10, 2025
Proof-of-principle: Nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid allelesMorgan Gueuning, Gian Andri Thun, Samuel Koller, et al.
Retinal Cases & Brief Reports|March 1, 2023
RAPID ONSET HYDROXYCHLOROQUINE TOXICITYBrida M Jeltsch, David Sarraf, Darius Madjdpour, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
European Journal of Immunology|April 13, 2007
Identification and characterization of a novel antigen from the nematode Nippostrongylus brasiliensis recognized by specific IgEVeronika Pochanke, Samuel Koller, Régine Dayer, et al.
International Journal of Molecular Sciences|September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy GenesJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|January 8, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> AlleleJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|April 28, 2023
Functional Analysis of a Novel, Non-Canonical <i>RPGR</i> Splice Variant Causing X-Linked Retinitis PigmentosaSamuel Koller, Tim Beltraminelli, Jordi Maggi, et al.
Investigative Ophthalmology & Visual Science|July 2, 2019
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis PigmentosaChristina Gerth-Kahlert, Samuel Koller, James V M Hanson, et al.
International Journal of Molecular Sciences|December 19, 2020
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South IndiaDinesh Kumar Kandaswamy, Makarla Venkata Sathya Prakash, Jochen Graw, et al.
International Journal of Molecular Sciences|February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal DiseasesJordi Maggi, Samuel Koller, Luzy Bähr, et al.
International Journal of Molecular Sciences|July 9, 2022
Homozygosity for a Novel <i>DOCK7</i> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual ImpairmentFatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, et al.
Blood Advances|November 10, 2025
Proof-of-principle: Nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid allelesMorgan Gueuning, Gian Andri Thun, Samuel Koller, et al.
Retinal Cases & Brief Reports|March 1, 2023
RAPID ONSET HYDROXYCHLOROQUINE TOXICITYBrida M Jeltsch, David Sarraf, Darius Madjdpour, et al.
Pageof 3