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

D Peeters

Showing results (121-130 of 132) with videos related to

Pageof 14
Sort By:
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Journal of Neurology|February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide studyI A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Journal of Neurology|March 24, 2018
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective studyC L de Mol, Y Y M Wong, E D van Pelt, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Pageof 14

Showing results (121-130 of 132) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|September 10, 2025
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorderHammad Yousaf, Maayke A de Koning, Kamal Khan, et al.
Journal of Neurology|February 22, 2012
Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide studyI A Ketelslegers, C E Catsman-Berrevoets, R F Neuteboom, et al.
American Journal of Human Genetics|January 1, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in DrosophilaDorien Lugtenberg, Margot R F Reijnders, Michaela Fenckova, et al.
American Journal of Human Genetics|February 9, 2019
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersSara Reynhout, Sandra Jansen, Dorien Haesen, et al.
Journal of Neurology|March 24, 2018
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective studyC L de Mol, Y Y M Wong, E D van Pelt, et al.
American Journal of Human Genetics|August 10, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2018
Correction: Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2018
Putting genome-wide sequencing in neonates into perspectivePleuntje J van der Sluijs, Emmelien Aten, Daniela Q C M Barge-Schaapveld, et al.
American Journal of Human Genetics|November 5, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disordersJacob R Stolz, Kendall M Foote, Hermine E Veenstra-Knol, et al.
Pageof 14