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

G Biesecker

Showing results (421-430 of 475) with videos related to

Pageof 48
Sort By:
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathiesAndrea M Gross, Megan Frone, Karen W Gripp, et al.
Stem Cell Reports|May 21, 2026
Genetics of growth rate in induced pluripotent stem cellsBrian N Lee, Henry J Taylor, Filippo Cipriani, et al.
Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.
Genome Research|July 16, 2009
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicineLeslie G Biesecker, James C Mullikin, Flavia M Facio, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowthCatherine E Cottrell, Nicole R Bender, Michael T Zimmermann, et al.
Pageof 48

Showing results (421-430 of 475) with videos related to

Sort By:
Pageof 48
American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.
American Journal of Medical Genetics. Part A|January 9, 2020
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathiesAndrea M Gross, Megan Frone, Karen W Gripp, et al.
Stem Cell Reports|May 21, 2026
Genetics of growth rate in induced pluripotent stem cellsBrian N Lee, Henry J Taylor, Filippo Cipriani, et al.
Human Genetics|November 10, 2001
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformationsM J Rosenberg, C Killoran, L Dziadzio, et al.
Genome Research|July 16, 2009
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicineLeslie G Biesecker, James C Mullikin, Flavia M Facio, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Human Molecular Genetics|April 4, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)D Y Nishimura, C C Searby, R Carmi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
American Journal of Human Genetics|June 14, 2011
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenanceEmma M M Burkitt Wright, Helen L Spencer, Sarah B Daly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowthCatherine E Cottrell, Nicole R Bender, Michael T Zimmermann, et al.
Pageof 48