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Birgit Sikkema-Raddatz

Showing results (51-60 of 60) with videos related to

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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.
International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Pediatrics|September 24, 2017
Rapid Targeted Genomics in Critically Ill NewbornsCleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, et al.
Prenatal Diagnosis|June 27, 2021
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register studyMaurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, et al.
International Journal of Neonatal Screening|March 27, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification StrategyGea Kiewiet, Dineke Westra, Eddy N de Boer, et al.
Nature Communications|June 30, 2019
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysisPatrick Deelen, Sipko van Dam, Johanna C Herkert, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Nature Biotechnology|August 18, 2014
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotypingPaula J P de Vree, Elzo de Wit, Mehmet Yilmaz, et al.
American Journal of Human Genetics|November 12, 2019
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the NetherlandsKaruna R M van der Meij, Erik A Sistermans, Merryn V E Macville, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
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.
International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Pediatrics|September 24, 2017
Rapid Targeted Genomics in Critically Ill NewbornsCleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, et al.
Prenatal Diagnosis|June 27, 2021
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register studyMaurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, et al.
International Journal of Neonatal Screening|March 27, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification StrategyGea Kiewiet, Dineke Westra, Eddy N de Boer, et al.
Nature Communications|June 30, 2019
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysisPatrick Deelen, Sipko van Dam, Johanna C Herkert, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Nature Biotechnology|August 18, 2014
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotypingPaula J P de Vree, Elzo de Wit, Mehmet Yilmaz, et al.
American Journal of Human Genetics|November 12, 2019
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the NetherlandsKaruna R M van der Meij, Erik A Sistermans, Merryn V E Macville, et al.
Pageof 6