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

Marcello Scala

Showing results (131-140 of 155) with videos related to

Pageof 16
Sort By:
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Nature Communications|January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAndrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
Pageof 16

Showing results (131-140 of 155) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|April 2, 2024
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|February 15, 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype studyAlix Paulet, Cavan Bennett-Ness, Faustine Ageorges, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Neurology. Genetics|June 3, 2022
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i>-DEEGanna Balagura, Julie Xian, Antonella Riva, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Clinical Genetics|February 19, 2025
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical ManagementGianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, et al.
Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Genome Medicine|May 29, 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profilesSissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, et al.
Nature Communications|January 8, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAndrea Accogli, Saurabh Shakya, Taewoo Yang, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
Pageof 16