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 (91-100 of 155) with videos related to

Pageof 16
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Clinical Genetics|September 21, 2024
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defectsMohammad Sadegh Shams Nosrati, Alireza Doustmohammadi, Mariasavina Severino, et al.
Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Brain : a Journal of Neurology|April 1, 2020
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disabilityMarcello Scala, Majid Mojarrad, Saima Riazuddin, et al.
Pageof 16

Showing results (91-100 of 155) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Clinical Genetics|September 21, 2024
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defectsMohammad Sadegh Shams Nosrati, Alireza Doustmohammadi, Mariasavina Severino, et al.
Human Mutation|July 14, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34Ranad Shaheen, Paul Mark, Christopher T Prevost, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
Clinical Genetics|July 23, 2021
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteinsSmrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Brain : a Journal of Neurology|April 1, 2020
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disabilityMarcello Scala, Majid Mojarrad, Saima Riazuddin, et al.
Pageof 16