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Marcello Scala

Showing results (61-70 of 155) with videos related to

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Frontiers in Pediatrics|January 31, 2022
Diagnostic Approach to Macrocephaly in ChildrenAndrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|April 14, 2021
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutationAntonella Riva, Antonietta Coppola, Ganna Balagura, et al.
Frontiers in Pediatrics|January 5, 2024
Case Report: Novel biallelic moderately damaging variants in <i>RTTN</i> in a patient with cerebellar dysplasiaFerruccio Romano, Elisabetta Amadori, Francesca Madia, et al.
Frontiers in Genetics|April 22, 2025
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care centerFerruccio Romano, Patrizia De Marco, Giulia Amico, et al.
European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
Expert Review of Neurotherapeutics|January 17, 2020
Advances in genetic testing and optimization of clinical management in children and adults with epilepsyMarcello Scala, Amedeo Bianchi, Francesca Bisulli, et al.
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
American Journal of Medical Genetics. Part A|February 6, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature reviewFerruccio Romano, Maria K Haanpää, Pawel Pomianowski, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Birth Defects Research|November 8, 2022
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issuesFerruccio Romano, Francesca Madia, Patrizia De Marco, et al.
Pageof 16

Showing results (61-70 of 155) with videos related to

Sort By:
Pageof 16
Frontiers in Pediatrics|January 31, 2022
Diagnostic Approach to Macrocephaly in ChildrenAndrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|April 14, 2021
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutationAntonella Riva, Antonietta Coppola, Ganna Balagura, et al.
Frontiers in Pediatrics|January 5, 2024
Case Report: Novel biallelic moderately damaging variants in <i>RTTN</i> in a patient with cerebellar dysplasiaFerruccio Romano, Elisabetta Amadori, Francesca Madia, et al.
Frontiers in Genetics|April 22, 2025
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care centerFerruccio Romano, Patrizia De Marco, Giulia Amico, et al.
European Journal of Human Genetics : EJHG|April 3, 2019
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled femalesMarcello Scala, Annalaura Torella, Mariasavina Severino, et al.
Expert Review of Neurotherapeutics|January 17, 2020
Advances in genetic testing and optimization of clinical management in children and adults with epilepsyMarcello Scala, Amedeo Bianchi, Francesca Bisulli, et al.
American Journal of Medical Genetics. Part A|March 27, 2020
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entityMargaux Serey-Gaut, Marcello Scala, Bruno Reversade, et al.
American Journal of Medical Genetics. Part A|February 6, 2024
Expanding the phenotype of UPF3B-related disorder: Case reports and literature reviewFerruccio Romano, Maria K Haanpää, Pawel Pomianowski, et al.
Journal of Medical Genetics|July 29, 2020
Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathyReza Maroofian, Jiří Sedmík, Neda Mazaheri, et al.
Birth Defects Research|November 8, 2022
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issuesFerruccio Romano, Francesca Madia, Patrizia De Marco, et al.
Pageof 16