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

Victoria Siu

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

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 20 results.
Nature Communications|October 9, 2021
Characterisation of tumour microenvironment remodelling following oncogene inhibition in preclinical studies with imaging mass cytometryFebe van Maldegem, Karishma Valand, Megan Cole, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardationMatthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expressionChelsea Lowther, Marsha Speevak, Christine M Armour, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Nature Communications|October 9, 2021
Characterisation of tumour microenvironment remodelling following oncogene inhibition in preclinical studies with imaging mass cytometryFebe van Maldegem, Karishma Valand, Megan Cole, et al.
American Journal of Human Genetics|February 3, 2007
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardationMatthew A Deardorff, Maninder Kaur, Dinah Yaeger, et al.
Human Mutation|October 11, 2013
Exome sequencing as a diagnostic tool for pediatric-onset ataxiaSarah L Sawyer, Jeremy Schwartzentruber, Chandree L Beaulieu, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expressionChelsea Lowther, Marsha Speevak, Christine M Armour, et al.
American Journal of Medical Genetics. Part A|January 8, 2019
Cornelia de Lange syndrome in diverse populationsLeah Dowsett, Antonio R Porras, Paul Kruszka, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
Pageof 2