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

Rolfs

Showing results (561-570 of 632) with videos related to

Pageof 64
Sort By:
Stroke|June 4, 2015
Family History in Young Patients With StrokeVincent Thijs, Ulrike Grittner, Martin Dichgans, et al.
Clinical Genetics|September 3, 2020
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotypeIman G Mahmoud, Mohamed A Elmonem, Maha S Zaki, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
International Journal of Molecular Sciences|October 23, 2019
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation TestXiao Feng, Claudia Cozma, Supansa Pantoom, et al.
European Journal of Human Genetics : EJHG|January 28, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive developmentElisa Rahikkala, Lea Urpa, Bishwa Ghimire, et al.
Molecular Systems Biology|April 14, 2019
INKA, an integrative data analysis pipeline for phosphoproteomic inference of active kinasesRobin Beekhof, Carolien van Alphen, Alex A Henneman, et al.
Human Mutation|June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.
Stroke|April 23, 2015
Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular eventFranz Fazekas, Christian Enzinger, Reinhold Schmidt, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
Pageof 64

Showing results (561-570 of 632) with videos related to

Sort By:
Pageof 64
Stroke|June 4, 2015
Family History in Young Patients With StrokeVincent Thijs, Ulrike Grittner, Martin Dichgans, et al.
Clinical Genetics|September 3, 2020
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotypeIman G Mahmoud, Mohamed A Elmonem, Maha S Zaki, et al.
Orphanet Journal of Rare Diseases|August 29, 2019
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeClaudia Cozma, Marina Hovakimyan, Marius-Ionuț Iurașcu, et al.
International Journal of Molecular Sciences|October 23, 2019
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation TestXiao Feng, Claudia Cozma, Supansa Pantoom, et al.
European Journal of Human Genetics : EJHG|January 28, 2022
A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive developmentElisa Rahikkala, Lea Urpa, Bishwa Ghimire, et al.
Molecular Systems Biology|April 14, 2019
INKA, an integrative data analysis pipeline for phosphoproteomic inference of active kinasesRobin Beekhof, Carolien van Alphen, Alex A Henneman, et al.
Human Mutation|June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.
Stroke|April 23, 2015
Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular eventFranz Fazekas, Christian Enzinger, Reinhold Schmidt, et al.
NPJ Genomic Medicine|October 21, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utilityHuma Cheema, Aida M Bertoli-Avella, Volha Skrahina, et al.
Pageof 64