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Christian Gilissen

Showing results (11-20 of 255) with videos related to

Pageof 26
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Human Mutation|May 23, 2019
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domainsLaurens Wiel, Coos Baakman, Daan Gilissen, et al.
Clinical Chemistry|June 12, 2024
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing DataSanne P Smeekens, Raoul Timmermans, Dineke Westra, et al.
Human Genetics|August 12, 2018
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expressionPaolo Devanna, Maartje van de Vorst, Rolph Pfundt, et al.
Nature Genetics|June 26, 2026
Near-perfect genome sequencing in medical geneticsQuentin Sabbagh, Christian Gilissen, Helger G Yntema, et al.
Genes|April 30, 2021
Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome SequencingMaria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, et al.
Human Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.
Human Genetics|July 16, 2024
Automatized detection of uniparental disomies in a large cohortJohanna Moch, Maximilian Radtke, Thomas Liehr, et al.
Scientific Reports|August 4, 2015
The heat shock response restricts virus infection in DrosophilaSarah H Merkling, Gijs J Overheul, Joël T van Mierlo, et al.
European Journal of Human Genetics : EJHG|July 7, 2025
Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common allelesHilde Swinkels, Maike Leferink, Maartje Pennings, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Pageof 26

Showing results (11-20 of 255) with videos related to

Sort By:
Pageof 26
Human Mutation|May 23, 2019
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domainsLaurens Wiel, Coos Baakman, Daan Gilissen, et al.
Clinical Chemistry|June 12, 2024
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing DataSanne P Smeekens, Raoul Timmermans, Dineke Westra, et al.
Human Genetics|August 12, 2018
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expressionPaolo Devanna, Maartje van de Vorst, Rolph Pfundt, et al.
Nature Genetics|June 26, 2026
Near-perfect genome sequencing in medical geneticsQuentin Sabbagh, Christian Gilissen, Helger G Yntema, et al.
Genes|April 30, 2021
Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome SequencingMaria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, et al.
Human Mutation|February 22, 2022
Clinical exome sequencing-Mistakes and caveatsJordi Corominas, Sanne P Smeekens, Marcel R Nelen, et al.
Human Genetics|July 16, 2024
Automatized detection of uniparental disomies in a large cohortJohanna Moch, Maximilian Radtke, Thomas Liehr, et al.
Scientific Reports|August 4, 2015
The heat shock response restricts virus infection in DrosophilaSarah H Merkling, Gijs J Overheul, Joël T van Mierlo, et al.
European Journal of Human Genetics : EJHG|July 7, 2025
Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common allelesHilde Swinkels, Maike Leferink, Maartje Pennings, et al.
Epilepsia|March 4, 2014
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalitiesAnna-Lena Baasch, Irina Hüning, Christian Gilissen, et al.
Pageof 26