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

Gali Heimer

Showing results (41-50 of 55) with videos related to

Pageof 6
Sort By:
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Pediatric Neurology|July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research DatabaseSarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Brain : a Journal of Neurology|April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathyOrtal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, 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.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.
Frontiers in Genetics|January 26, 2023
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disordersMaayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2015
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosXiaolin Zhu, Slavé Petrovski, Pingxing Xie, et al.
Pediatric Neurology|July 3, 2026
Examining Epilepsy in Angelman Syndrome: Insights From Caregiver-Reported Data in the Linking Angelman and Dup15q Data for Expanded Research DatabaseSarah Nelson Potter, Carlos Petzold, Katie Garbarini, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Brain : a Journal of Neurology|April 2, 2017
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathyOrtal Barel, May Christine V Malicdan, Bruria Ben-Zeev, et al.
American Journal of Human Genetics|November 8, 2016
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis DisorderGali Heimer, Juha M Kerätär, Lisa G Riley, et al.
Scientific Reports|September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomaliesBen Pode-Shakked, Ortal Barel, Amihood Singer, 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.
Pageof 6