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

Michael E Talkowski

Showing results (61-70 of 184) with videos related to

Pageof 19
Sort By:
Genome Medicine|December 6, 2019
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variantsSjors Middelkamp, Judith M Vlaar, Jacques Giltay, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 9, 2014
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsAarathi Sugathan, Marta Biagioli, Christelle Golzio, et al.
JAMA Neurology|May 31, 2017
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive DystoniaKatja Lohmann, Claire Redin, Holger Tönnies, et al.
Scientific Reports|January 26, 2017
Potential molecular consequences of transgene integration: The R6/2 mouse exampleJessie C Jacobsen, Serkan Erdin, Colby Chiang, et al.
Nature Genetics|August 21, 2023
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
Molecular Autism|June 7, 2020
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neuronsCatarina M Seabra, Tatsiana Aneichyk, Serkan Erdin, et al.
Human Molecular Genetics|November 30, 2007
A network of dopaminergic gene variations implicated as risk factors for schizophreniaMichael E Talkowski, George Kirov, Mikhil Bamne, et al.
Molecular Autism|October 7, 2021
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorderBehrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Biorxiv : the Preprint Server for Biology|May 18, 2026
Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromesJannis Buecking, Baran Enes Güler, Michael Eibl, et al.
Pageof 19

Showing results (61-70 of 184) with videos related to

Sort By:
Pageof 19
Genome Medicine|December 6, 2019
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variantsSjors Middelkamp, Judith M Vlaar, Jacques Giltay, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 9, 2014
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitorsAarathi Sugathan, Marta Biagioli, Christelle Golzio, et al.
JAMA Neurology|May 31, 2017
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive DystoniaKatja Lohmann, Claire Redin, Holger Tönnies, et al.
Scientific Reports|January 26, 2017
Potential molecular consequences of transgene integration: The R6/2 mouse exampleJessie C Jacobsen, Serkan Erdin, Colby Chiang, et al.
Nature Genetics|August 21, 2023
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing dataMehrtash Babadi, Jack M Fu, Samuel K Lee, et al.
Molecular Autism|June 7, 2020
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neuronsCatarina M Seabra, Tatsiana Aneichyk, Serkan Erdin, et al.
Human Molecular Genetics|November 30, 2007
A network of dopaminergic gene variations implicated as risk factors for schizophreniaMichael E Talkowski, George Kirov, Mikhil Bamne, et al.
Molecular Autism|October 7, 2021
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorderBehrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, et al.
European Journal of Human Genetics : EJHG|July 7, 2016
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delaySamantha Lp Schilit, Benjamin B Currall, Ruen Yao, et al.
Biorxiv : the Preprint Server for Biology|May 18, 2026
Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromesJannis Buecking, Baran Enes Güler, Michael Eibl, et al.
Pageof 19