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Elena Buena-Atienza

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Progress in Retinal and Eye Research|June 20, 2020
Splicing mutations in inherited retinal diseasesNicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
BMC Medical Genetics|June 27, 2018
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case reportElena Buena-Atienza, Fadi Nasser, Susanne Kohl, et al.
Nature Biotechnology|December 15, 2020
Efficient hybrid de novo assembly of human genomes with WENGANAlex Di Genova, Elena Buena-Atienza, Stephan Ossowski, et al.
Gigascience|October 24, 2025
Ultra-deep long-read metagenomics captures diverse taxonomic and biosynthetic potential of soil microbesCaner Bağcı, Timo Negri, Elena Buena-Atienza, et al.
Open Biology|July 30, 2025
Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neuronsJishu Xu, Michaela Hörner, Elena Buena Atienza, et al.
NPJ Parkinson'S Disease|November 23, 2023
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's studySinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, et al.
International Journal of Molecular Sciences|June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA RepeatsJoohyun Park, Claudia Dufke, Zofia Fleszar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 15, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's DiseaseNikolaos Papagiannakis, Hui Liu, Christos Koros, et al.
International Journal of Molecular Sciences|October 14, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the <i>DMD</i> GeneLeoni S Erbe, Sabine Hoffjan, Sören Janßen, et al.
Human Molecular Genetics|July 19, 2015
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotypeVithiyanjali Sothilingam, Marina Garcia Garrido, Kangwei Jiao, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Progress in Retinal and Eye Research|June 20, 2020
Splicing mutations in inherited retinal diseasesNicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
BMC Medical Genetics|June 27, 2018
A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case reportElena Buena-Atienza, Fadi Nasser, Susanne Kohl, et al.
Nature Biotechnology|December 15, 2020
Efficient hybrid de novo assembly of human genomes with WENGANAlex Di Genova, Elena Buena-Atienza, Stephan Ossowski, et al.
Gigascience|October 24, 2025
Ultra-deep long-read metagenomics captures diverse taxonomic and biosynthetic potential of soil microbesCaner Bağcı, Timo Negri, Elena Buena-Atienza, et al.
Open Biology|July 30, 2025
Long-read RNA-sequencing reveals transcript-specific regulation in human-derived cortical neuronsJishu Xu, Michaela Hörner, Elena Buena Atienza, et al.
NPJ Parkinson'S Disease|November 23, 2023
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's studySinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, et al.
International Journal of Molecular Sciences|June 13, 2025
Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA RepeatsJoohyun Park, Claudia Dufke, Zofia Fleszar, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 15, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's DiseaseNikolaos Papagiannakis, Hui Liu, Christos Koros, et al.
International Journal of Molecular Sciences|October 14, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the <i>DMD</i> GeneLeoni S Erbe, Sabine Hoffjan, Sören Janßen, et al.
Human Molecular Genetics|July 19, 2015
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotypeVithiyanjali Sothilingam, Marina Garcia Garrido, Kangwei Jiao, et al.
Pageof 2