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

Erica E Davis

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

Pageof 13
Sort By:
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
American Journal of Human Genetics|December 9, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 13

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

Sort By:
Pageof 13
American Journal of Human Genetics|October 22, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansJan Halbritter, Albane A Bizet, Miriam Schmidts, et al.
American Journal of Human Genetics|December 9, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.
Nature Communications|May 14, 2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanismsKarsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Nature Genetics|May 27, 2017
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.
Pageof 13