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

Murat Gunel

Showing results (111-120 of 118) with videos related to

Pageof 12
Sort By:
You have reached the last page of results.This site can display upto 118 results.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
JAMA Neurology|June 14, 2021
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya DiseaseAdam J Kundishora, Samuel T Peters, Amélie Pinard, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Nature Communications|November 17, 2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 12

Showing results (111-120 of 118) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 118 results.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
JAMA Neurology|June 14, 2021
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya DiseaseAdam J Kundishora, Samuel T Peters, Amélie Pinard, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Nature Communications|November 17, 2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
Acta Neuropathologica|December 11, 2019
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseasesElena Perenthaler, Anita Nikoncuk, Soheil Yousefi, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.
Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Pageof 12