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

Jay W Ellison

Showing results (11-20 of 24) with videos related to

Pageof 3
Sort By:
American Journal of Medical Genetics. Part A|April 2, 2010
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndromeSalman Kirmani, Peter J Tebben, Aida N Lteif, et al.
Journal of Medical Genetics|November 14, 2006
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromesJennifer J Johnston, Robert L Walker, Sean Davis, et al.
Prenatal Diagnosis|August 1, 2012
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundLisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, et al.
Fetal Diagnosis and Therapy|August 14, 2014
Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimensJill A Rosenfeld, S Anne Morton, Cathryn Hummel, et al.
Prenatal Diagnosis|August 7, 2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesLisa G Shaffer, Mindy P Dabell, Allan J Fisher, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patientsShimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
European Journal of Human Genetics : EJHG|August 2, 2007
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHDBarbara Pasini, Sarah R McWhinney, Thalia Bei, et al.
Pediatrics|October 17, 2012
Clinical utility of chromosomal microarray analysisJay W Ellison, J Britt Ravnan, Jill A Rosenfeld, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|April 2, 2010
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndromeSalman Kirmani, Peter J Tebben, Aida N Lteif, et al.
Journal of Medical Genetics|November 14, 2006
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromesJennifer J Johnston, Robert L Walker, Sean Davis, et al.
Prenatal Diagnosis|August 1, 2012
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasoundLisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, et al.
Fetal Diagnosis and Therapy|August 14, 2014
Experience using a rapid assay for aneuploidy and microdeletion/microduplication detection in over 2,900 prenatal specimensJill A Rosenfeld, S Anne Morton, Cathryn Hummel, et al.
Prenatal Diagnosis|August 7, 2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesLisa G Shaffer, Mindy P Dabell, Allan J Fisher, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patientsShimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
European Journal of Human Genetics : EJHG|August 2, 2007
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHDBarbara Pasini, Sarah R McWhinney, Thalia Bei, et al.
Pediatrics|October 17, 2012
Clinical utility of chromosomal microarray analysisJay W Ellison, J Britt Ravnan, Jill A Rosenfeld, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Pageof 3