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Marcello Scala

Showing results (21-30 of 155) with videos related to

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Pediatric Neurology|January 15, 2026
Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic AbnormalitiesGuido Guberman, Marcello Scala, Pasquale Striano, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 12, 2018
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasiaMarcello Scala, Andrea Accogli, Anna Maria Elsa Allegri, et al.
American Journal of Medical Genetics. Part A|January 10, 2018
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusionsMarcello Scala, Andrea Accogli, Elisa De Grandis, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|November 9, 2022
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive courseCarolina Croci, Monica Traverso, Serena Baratto, et al.
Neuropediatrics|May 29, 2019
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome InactivationMarcello Scala, Monica Traverso, Valeria Capra, et al.
Journal of Genetics|June 18, 2019
<i>SCN2A</i> mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disordersVictoria Vlachou, Line Larsen, Efterpi Pavlidou, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 31, 2023
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathySilvia Boeri, Marcello Scala, Francesca Madia, et al.
Journal of the Neurological Sciences|April 18, 2020
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosisBeenish Azad, Stephanie Efthymiou, Tipu Sultan, et al.
Brain : a Journal of Neurology|September 7, 2022
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndromeMarcello Scala, Elisa De Grandis, Giulia Nobile, et al.
Neuroradiology|May 17, 2020
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.
Pageof 16

Showing results (21-30 of 155) with videos related to

Sort By:
Pageof 16
Pediatric Neurology|January 15, 2026
Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic AbnormalitiesGuido Guberman, Marcello Scala, Pasquale Striano, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 12, 2018
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasiaMarcello Scala, Andrea Accogli, Anna Maria Elsa Allegri, et al.
American Journal of Medical Genetics. Part A|January 10, 2018
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusionsMarcello Scala, Andrea Accogli, Elisa De Grandis, et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|November 9, 2022
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive courseCarolina Croci, Monica Traverso, Serena Baratto, et al.
Neuropediatrics|May 29, 2019
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome InactivationMarcello Scala, Monica Traverso, Valeria Capra, et al.
Journal of Genetics|June 18, 2019
<i>SCN2A</i> mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disordersVictoria Vlachou, Line Larsen, Efterpi Pavlidou, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 31, 2023
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathySilvia Boeri, Marcello Scala, Francesca Madia, et al.
Journal of the Neurological Sciences|April 18, 2020
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosisBeenish Azad, Stephanie Efthymiou, Tipu Sultan, et al.
Brain : a Journal of Neurology|September 7, 2022
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndromeMarcello Scala, Elisa De Grandis, Giulia Nobile, et al.
Neuroradiology|May 17, 2020
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.
Pageof 16