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

Damir Musaev

Showing results (21-30 of 31) with videos related to

Pageof 4
Sort By:
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.
Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.
Brain : a Journal of Neurology|April 16, 2020
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of functionMonica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, et al.
Annals of Neurology|September 5, 2018
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia SyndromeAlicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, et al.
American Journal of Human Genetics|March 30, 2020
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and EpilepsyThi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, et al.
The Journal of Clinical Investigation|January 9, 2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.
Nature Genetics|July 18, 2018
Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migrationAshleigh E Schaffer, Martin W Breuss, Ahmet Okay Caglayan, et al.
American Journal of Human Genetics|September 10, 2019
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital ArthrogryposisPamela Magini, Daphne J Smits, Laura Vandervore, et al.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Pageof 4