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

Katia Sol-Church

Showing results (21-30 of 68) with videos related to

Pageof 7
Sort By:
American Journal of Medical Genetics. Part A|April 5, 2017
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndromeDavid D Schwartz, Jennifer M Katzenstein, Eric J Highley, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A|September 3, 2016
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcomaKatherine M Robbins, Deborah L Stabley, Jennifer Holbrook, et al.
Journal of Biomolecular Techniques : JBT|February 5, 2015
An integrated approach for analyzing clinical genomic variant data from next-generation sequencingErin L Crowgey, Deborah L Stabley, Chuming Chen, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Living with Costello syndrome: quality of life issues in older individualsElizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Journal of Biomolecular Techniques : JBT|April 10, 2023
Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of ResearchSusan M Meyn, Kathryn A Ramirez-Aguilar, Christopher W Gregory, et al.
American Journal of Medical Genetics. Part A|November 18, 2015
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansionKaren W Gripp, Katherine M Robbins, Brandon S Sheffield, et al.
European Journal of Human Genetics : EJHG|April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral densityMarcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Scientific Reports|July 28, 2022
Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brainRebecca M Beiter, Courtney Rivet-Noor, Andrea R Merchak, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
Normative growth charts for individuals with Costello syndromeMary R Sammon, Dan Doyle, Elizabeth Hopkins, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|April 5, 2017
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndromeDavid D Schwartz, Jennifer M Katzenstein, Eric J Highley, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church, Deborah L Stabley, Laurie A Demmer, et al.
American Journal of Medical Genetics. Part A|September 3, 2016
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcomaKatherine M Robbins, Deborah L Stabley, Jennifer Holbrook, et al.
Journal of Biomolecular Techniques : JBT|February 5, 2015
An integrated approach for analyzing clinical genomic variant data from next-generation sequencingErin L Crowgey, Deborah L Stabley, Chuming Chen, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
Living with Costello syndrome: quality of life issues in older individualsElizabeth Hopkins, Angela E Lin, Katherine E Krepkovich, et al.
Journal of Biomolecular Techniques : JBT|April 10, 2023
Addressing the Environmental Impact of Science Through a More Rigorous, Reproducible, and Sustainable Conduct of ResearchSusan M Meyn, Kathryn A Ramirez-Aguilar, Christopher W Gregory, et al.
American Journal of Medical Genetics. Part A|November 18, 2015
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansionKaren W Gripp, Katherine M Robbins, Brandon S Sheffield, et al.
European Journal of Human Genetics : EJHG|April 14, 2005
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral densityMarcella Devoto, Loretta D Spotila, Deborah L Stabley, et al.
Scientific Reports|July 28, 2022
Evidence for oligodendrocyte progenitor cell heterogeneity in the adult mouse brainRebecca M Beiter, Courtney Rivet-Noor, Andrea R Merchak, et al.
American Journal of Medical Genetics. Part A|August 14, 2012
Normative growth charts for individuals with Costello syndromeMary R Sammon, Dan Doyle, Elizabeth Hopkins, et al.
Pageof 7