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Marcello Scala

Showing results (31-40 of 155) with videos related to

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Neuroradiology|June 6, 2020
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathyDomenico Tortora, Camilla Scavetta, Giacomo Rebella, et al.
Journal of Medical Genetics|May 20, 2022
Gain-of-function p.F28S variant in <i>RAC3</i> disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorderMasashi Nishikawa, Marcello Scala, Muhammad Umair, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categoriesSimona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Birth Defects Research|July 17, 2025
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal ModelsFerruccio Romano, Patrizia De Marco, Marzia Ognibene, et al.
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
Birth Defects Research|May 28, 2020
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorderAndrea Accogli, Marcello Scala, Marco Pavanello, et al.
Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.
Brain & Development|April 24, 2022
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrumThea Giacomini, Marcello Scala, Giulia Nobile, et al.
Pageof 16

Showing results (31-40 of 155) with videos related to

Sort By:
Pageof 16
Neuroradiology|June 6, 2020
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathyDomenico Tortora, Camilla Scavetta, Giacomo Rebella, et al.
Journal of Medical Genetics|May 20, 2022
Gain-of-function p.F28S variant in <i>RAC3</i> disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorderMasashi Nishikawa, Marcello Scala, Muhammad Umair, et al.
European Journal of Human Genetics : EJHG|May 31, 2024
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|April 8, 2025
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesGerman Demidov, Steven Laurie, Annalaura Torella, et al.
European Journal of Human Genetics : EJHG|February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categoriesSimona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.
Birth Defects Research|July 17, 2025
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal ModelsFerruccio Romano, Patrizia De Marco, Marzia Ognibene, et al.
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
Birth Defects Research|May 28, 2020
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorderAndrea Accogli, Marcello Scala, Marco Pavanello, et al.
Italian Journal of Pediatrics|October 13, 2021
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variantsMarcello Scala, Midas Anijs, Roberta Battini, et al.
Brain & Development|April 24, 2022
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrumThea Giacomini, Marcello Scala, Giulia Nobile, et al.
Pageof 16