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

Engin Deniz

Showing results (81-90 of 91) with videos related to

Pageof 10
Sort By:
American Journal of Medical Genetics. Part A|July 28, 2022
A retrospective cohort analysis of the Yale pediatric genomics discovery programSamir Al-Ali, Lauren Jeffries, E Vincent S Faustino, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.
Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2024
Pathogenic variants in autism gene <i>KATNAL2</i> cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamicsTyrone DeSpenza, Amrita Singh, Garrett Allington, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
Nature Medicine|December 10, 2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humansTanyeri Barak, Emma Ristori, A Gulhan Ercan-Sencicek, et al.
Nature Neuroscience|February 24, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitorsTyrone DeSpenza, Emre Kiziltug, Garrett Allington, et al.
Nature Neuroscience|April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusPhan Q Duy, Stefan C Weise, Claudia Marini, et al.
Pageof 10

Showing results (81-90 of 91) with videos related to

Sort By:
Pageof 10
American Journal of Medical Genetics. Part A|July 28, 2022
A retrospective cohort analysis of the Yale pediatric genomics discovery programSamir Al-Ali, Lauren Jeffries, E Vincent S Faustino, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 11, 2024
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusAmrita K Singh, Stephen Viviano, Garrett Allington, et al.
Brain : a Journal of Neurology|December 21, 2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusAmrita K Singh, Garrett Allington, Stephen Viviano, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2024
Pathogenic variants in autism gene <i>KATNAL2</i> cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamicsTyrone DeSpenza, Amrita Singh, Garrett Allington, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
Nature Medicine|December 10, 2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humansTanyeri Barak, Emma Ristori, A Gulhan Ercan-Sencicek, et al.
Nature Neuroscience|February 24, 2025
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitorsTyrone DeSpenza, Emre Kiziltug, Garrett Allington, et al.
Nature Neuroscience|April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusPhan Q Duy, Stefan C Weise, Claudia Marini, et al.
Pageof 10