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Showing results (91-100 of 99) with videos related to

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Journal of Dermatological Science|May 20, 2025
Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosaEddy N de Boer, L Agnes Grutters, Rosalie Baardman, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
International Journal of Molecular Sciences|April 17, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological DisordersEddy N de Boer, Arjen J Scheper, Dennis Hendriksen, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
Frontiers in Immunology|June 12, 2026
A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunityWillem T K Maassen, Lotte C E T Pape, Tim Niemeijer, et al.
Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
F1000Research|August 9, 2021
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchDavid Salgado, Irina M Armean, Michael Baudis, et al.
European Journal of Human Genetics : EJHG|January 29, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, et al.
European Journal of Human Genetics : EJHG|August 14, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, et al.
Pageof 10

Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
Journal of Dermatological Science|May 20, 2025
Long-read sequencing cracks unsolved cases and further improves genome diagnostics in epidermolysis bullosaEddy N de Boer, L Agnes Grutters, Rosalie Baardman, et al.
NPJ Genomic Medicine|October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesGerman Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
International Journal of Molecular Sciences|April 17, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological DisordersEddy N de Boer, Arjen J Scheper, Dennis Hendriksen, et al.
BMC Medical Genomics|February 6, 2016
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephalyPatrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, et al.
Frontiers in Immunology|June 12, 2026
A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunityWillem T K Maassen, Lotte C E T Pape, Tim Niemeijer, et al.
Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
F1000Research|August 9, 2021
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchDavid Salgado, Irina M Armean, Michael Baudis, et al.
European Journal of Human Genetics : EJHG|January 29, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, et al.
European Journal of Human Genetics : EJHG|August 14, 2015
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsTerry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, et al.
Pageof 10