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

Alex V Levin

Showing results (221-230 of 231) with videos related to

Pageof 24
Sort By:
American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
American Journal of Medical Genetics. Part A|February 8, 2014
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstractsAntonie D Kline, Anne L Calof, Cheri A Schaaf, et al.
Pediatric Neurology|March 12, 2019
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber SyndromeAlyssa M Day, Charles E McCulloch, Adrienne M Hammill, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.
Pageof 24

Showing results (221-230 of 231) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
American Journal of Medical Genetics. Part A|February 8, 2014
Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstractsAntonie D Kline, Anne L Calof, Cheri A Schaaf, et al.
Pediatric Neurology|March 12, 2019
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber SyndromeAlyssa M Day, Charles E McCulloch, Adrienne M Hammill, et al.
Journal of Medical Genetics|July 26, 2022
Axenfeld-Rieger syndrome: more than meets the eyeLinda M Reis, Mohit Maheshwari, Jenina Capasso, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.
Nature Genetics|November 5, 2003
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada, Caroline Andrews, Wai-Man Chan, et al.
Cell|January 16, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceMax A Tischfield, Hagit N Baris, Chen Wu, et al.
Pageof 24