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

Rachel Schot

Showing results (51-60 of 63) with videos related to

Pageof 7
Sort By:
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.
Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|July 29, 2025
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disordersDaphne J Smits, Christophe Debuy, Alice S Brooks, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
European Journal of Human Genetics : EJHG|October 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision makingDaphne J Smits, Federico Ferraro, Mark Drost, et al.
Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
American Journal of Human Genetics|November 19, 2019
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
American Journal of Human Genetics|January 20, 2022
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorderSébastien Küry, Frédéric Ebstein, Alice Mollé, et al.
HGG Advances|September 24, 2025
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction toolsMark Drost, Jordy Dekker, Federico Ferraro, et al.
Pageof 7