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Birgit Sikkema-Raddatz

Showing results (31-40 of 60) with videos related to

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Scientific Reports|April 11, 2024
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnosticsEddy N de Boer, Vincent Vroom, Arjen J Scheper, et al.
International Journal of Neonatal Screening|March 24, 2022
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges AheadAbigail Veldman, Mensiena B G Kiewiet, Margaretha Rebecca Heiner-Fokkema, et al.
Human Pathology|May 31, 2006
BCL6 alternative breakpoint region break and homozygous deletion of 17q24 in the nodular lymphocyte predominance type of Hodgkin's lymphoma-derived cell line DEVCiğdem Atayar, Klaas Kok, Joost Kluiver, et al.
Scientific Reports|December 6, 2016
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) resultsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.
Genome Biology|January 18, 2017
GAVIN: Gene-Aware Variant INterpretation for medical sequencingK Joeri van der Velde, Eddy N de Boer, Cleo C van Diemen, et al.
Human Mutation|February 12, 2016
CoNVaDING: Single Exon Variation Detection in Targeted NGS DataLennart F Johansson, Freerk van Dijk, Eddy N de Boer, et al.
Human Mutation|April 10, 2013
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnosticsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.
Clinical Chemistry|May 26, 2018
Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus AmplificationMohamed Z Alimohamed, Lennart F Johansson, Eddy N de Boer, et al.
Frontiers in Pediatrics|June 17, 2021
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University HospitalMiriam E Imafidon, Birgit Sikkema-Raddatz, Kristin M Abbott, et al.
Frontiers in Genetics|April 11, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown SignificanceFatemeh Ghorbani, Mohamed Z Alimohamed, Juliana F Vilacha, et al.
Pageof 6

Showing results (31-40 of 60) with videos related to

Sort By:
Pageof 6
Scientific Reports|April 11, 2024
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnosticsEddy N de Boer, Vincent Vroom, Arjen J Scheper, et al.
International Journal of Neonatal Screening|March 24, 2022
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges AheadAbigail Veldman, Mensiena B G Kiewiet, Margaretha Rebecca Heiner-Fokkema, et al.
Human Pathology|May 31, 2006
BCL6 alternative breakpoint region break and homozygous deletion of 17q24 in the nodular lymphocyte predominance type of Hodgkin's lymphoma-derived cell line DEVCiğdem Atayar, Klaas Kok, Joost Kluiver, et al.
Scientific Reports|December 6, 2016
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) resultsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.
Genome Biology|January 18, 2017
GAVIN: Gene-Aware Variant INterpretation for medical sequencingK Joeri van der Velde, Eddy N de Boer, Cleo C van Diemen, et al.
Human Mutation|February 12, 2016
CoNVaDING: Single Exon Variation Detection in Targeted NGS DataLennart F Johansson, Freerk van Dijk, Eddy N de Boer, et al.
Human Mutation|April 10, 2013
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnosticsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.
Clinical Chemistry|May 26, 2018
Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus AmplificationMohamed Z Alimohamed, Lennart F Johansson, Eddy N de Boer, et al.
Frontiers in Pediatrics|June 17, 2021
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University HospitalMiriam E Imafidon, Birgit Sikkema-Raddatz, Kristin M Abbott, et al.
Frontiers in Genetics|April 11, 2022
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown SignificanceFatemeh Ghorbani, Mohamed Z Alimohamed, Juliana F Vilacha, et al.
Pageof 6