Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Vyne van der Schoot

Showing results (11-20 of 23) with videos related to

Pageof 3
Sort By:
European Journal of Medical Genetics|September 14, 2023
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosisKarin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Prenatal Diagnosis|December 23, 2023
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing resultsStephany H Donze, Malgorzata I Srebniak, Karin E M Diderich, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.
Journal of Assisted Reproduction and Genetics|September 7, 2018
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014Malou Heijligers, Aafke van Montfoort, Madelon Meijer-Hoogeveen, et al.
Human Molecular Genetics|May 14, 2022
Whole exome sequencing of known eye genes reveals genetic causes for high myopiaAnnechien E G Haarman, Alberta A H J Thiadens, Marianne van Tienhoven, et al.
Prenatal Diagnosis|June 18, 2025
Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, et al.
Prenatal Diagnosis|September 24, 2025
Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective StudyAdriana I Iglesias, Diane Van Opstal, Florentine F Thurik, et al.
Prenatal Diagnosis|September 30, 2024
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound AnomaliesKarin E M Diderich, Hennie T Bruggenwirth, Marieke Joosten, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|September 14, 2023
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosisKarin E M Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, et al.
Human Mutation|April 25, 2018
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disabilityServi J C Stevens, Vyne van der Schoot, Magalie S Leduc, et al.
Prenatal Diagnosis|December 23, 2023
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing resultsStephany H Donze, Malgorzata I Srebniak, Karin E M Diderich, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.
Journal of Assisted Reproduction and Genetics|September 7, 2018
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014Malou Heijligers, Aafke van Montfoort, Madelon Meijer-Hoogeveen, et al.
Human Molecular Genetics|May 14, 2022
Whole exome sequencing of known eye genes reveals genetic causes for high myopiaAnnechien E G Haarman, Alberta A H J Thiadens, Marianne van Tienhoven, et al.
Prenatal Diagnosis|June 18, 2025
Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13Malgorzata I Srebniak, Marjolein Weerts, Marieke Joosten, et al.
Prenatal Diagnosis|September 24, 2025
Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective StudyAdriana I Iglesias, Diane Van Opstal, Florentine F Thurik, et al.
Prenatal Diagnosis|September 30, 2024
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound AnomaliesKarin E M Diderich, Hennie T Bruggenwirth, Marieke Joosten, et al.
JAMA|July 25, 2020
Presence of Genetic Variants Among Young Men With Severe COVID-19Caspar I van der Made, Annet Simons, Janneke Schuurs-Hoeijmakers, et al.
Pageof 3