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Marcello Scala

Showing results (111-120 of 155) with videos related to

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Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
Pageof 16

Showing results (111-120 of 155) with videos related to

Sort By:
Pageof 16
Neurology. Genetics|June 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in <i>ABCC9</i>-Related Intellectual Disability and Myopathy SyndromeVini Nagaraj, Quentin Hugo Thomas, Paulo Ribeiro Nóbrega, et al.
Journal of Medical Genetics|November 29, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in ItalyDavide Mei, Simona Balestrini, Elena Parrini, et al.
Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Clinical Genetics|April 9, 2026
Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion SyndromeAmber S E van Oirsouw, Tzung-Chien Hsieh, Martijn Koetsier, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
American Journal of Human Genetics|December 20, 2024
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
Pageof 16