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 (21-30 of 184) with videos related to

Pageof 19
Sort By:
JAMA Pediatrics|July 18, 2022
Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at DiagnosisSusan S Kuo, Celia van der Merwe, Jack M Fu, et al.
Schizophrenia Bulletin|March 14, 2009
RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sampleKonasale M Prasad, Laura Almasy, Ruben C Gur, et al.
Journal of Personalized Medicine|January 26, 2016
An eMERGE Clinical Center at Partners Personalized MedicineJordan W Smoller, Elizabeth W Karlson, Robert C Green, et al.
Cell Stem Cell|July 5, 2014
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencingAdrian Veres, Bridget S Gosis, Qiurong Ding, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatinCinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, et al.
Prenatal Diagnosis|January 19, 2024
Improving prenatal diagnosis through standards and aggregationMichael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, et al.
American Journal of Human Genetics|April 22, 2014
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclatureZehra Ordulu, Kristen E Wong, Benjamin B Currall, et al.
Scientific Reports|January 4, 2024
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Nature Genetics|July 27, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disordersAlfredo M Valencia, Akshay Sankar, Pleuntje J van der Sluijs, et al.
Pageof 19

Showing results (21-30 of 184) with videos related to

Sort By:
Pageof 19
JAMA Pediatrics|July 18, 2022
Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis: Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at DiagnosisSusan S Kuo, Celia van der Merwe, Jack M Fu, et al.
Schizophrenia Bulletin|March 14, 2009
RGS4 polymorphisms associated with variability of cognitive performance in a family-based schizophrenia sampleKonasale M Prasad, Laura Almasy, Ruben C Gur, et al.
Journal of Personalized Medicine|January 26, 2016
An eMERGE Clinical Center at Partners Personalized MedicineJordan W Smoller, Elizabeth W Karlson, Robert C Green, et al.
Cell Stem Cell|July 5, 2014
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencingAdrian Veres, Bridget S Gosis, Qiurong Ding, et al.
European Journal of Human Genetics : EJHG|January 12, 2018
Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatinCinthya J Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, et al.
Prenatal Diagnosis|January 19, 2024
Improving prenatal diagnosis through standards and aggregationMichael H Duyzend, Pilar Cacheiro, Julius O B Jacobsen, et al.
American Journal of Human Genetics|April 22, 2014
Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclatureZehra Ordulu, Kristen E Wong, Benjamin B Currall, et al.
Scientific Reports|January 4, 2024
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Biorxiv : the Preprint Server for Biology|October 9, 2023
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous systemRicardo Harripaul, Elisabetta Morini, Monica Salani, et al.
Nature Genetics|July 27, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disordersAlfredo M Valencia, Akshay Sankar, Pleuntje J van der Sluijs, et al.
Pageof 19