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Gene Therapy
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July 13, 2019
A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA
Eddy N de Boer, Petra E van der Wouden, Lennart F Johansson, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2025
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Eleana Rraku, Aafke Engwerda, Tyler D Medina, et al.
Human Mutation
|
January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, et al.
Clinical Chemistry
|
July 3, 2020
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing
Eddy N de Boer, Lennart F Johansson, Kim de Lange, et al.
BMC Bioinformatics
|
December 19, 2018
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Lennart F Johansson, Hendrik A de Weerd, Eddy N de Boer, et al.
Advanced Genetics (Hoboken, N.J.)
|
January 9, 2023
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature
K Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, et al.
Plos Computational Biology
|
September 28, 2023
Ten quick tips for building FAIR workflows
Casper de Visser, Lennart F Johansson, Purva Kulkarni, et al.
Clinical Chemistry
|
December 1, 2020
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING
Kim de Lange, Eddy N de Boer, Anneke Bosga, et al.
Clinical Chemistry
|
January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencing
Jessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Scientific Reports
|
April 11, 2024
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
Eddy N de Boer, Vincent Vroom, Arjen J Scheper, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 27) with videos related to
Sort By:
Page
of 3
Gene Therapy
|
July 13, 2019
A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA
Eddy N de Boer, Petra E van der Wouden, Lennart F Johansson, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2025
Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views
Eleana Rraku, Aafke Engwerda, Tyler D Medina, et al.
Human Mutation
|
January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Eleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, et al.
Clinical Chemistry
|
July 3, 2020
Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing
Eddy N de Boer, Lennart F Johansson, Kim de Lange, et al.
BMC Bioinformatics
|
December 19, 2018
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing
Lennart F Johansson, Hendrik A de Weerd, Eddy N de Boer, et al.
Advanced Genetics (Hoboken, N.J.)
|
January 9, 2023
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature
K Joeri van der Velde, Sander van den Hoek, Freerk van Dijk, et al.
Plos Computational Biology
|
September 28, 2023
Ten quick tips for building FAIR workflows
Casper de Visser, Lennart F Johansson, Purva Kulkarni, et al.
Clinical Chemistry
|
December 1, 2020
Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING
Kim de Lange, Eddy N de Boer, Anneke Bosga, et al.
Clinical Chemistry
|
January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencing
Jessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Scientific Reports
|
April 11, 2024
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
Eddy N de Boer, Vincent Vroom, Arjen J Scheper, et al.
Page
of 3