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

Elizabeth C Engle

Showing results (111-120 of 125) with videos related to

Pageof 13
Sort By:
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Science (New York, N.Y.)|April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Nature Communications|July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndromeSilvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, 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.
Pageof 13

Showing results (111-120 of 125) with videos related to

Sort By:
Pageof 13
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 15, 2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael S L Ching, Yiping Shen, Wen-Hann Tan, et al.
American Journal of Human Genetics|November 26, 2018
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon GuidanceWilliam B Dobyns, Kimberly A Aldinger, Gisele E Ishak, et al.
Science (New York, N.Y.)|April 24, 2004
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesisJoanna C Jen, Wai-Man Chan, Thomas M Bosley, et al.
Nature Communications|July 7, 2017
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndromeSilvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, et al.
Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disordersJulie A Jurgens, Brenda J Barry, Wai-Man Chan, 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.
Pageof 13