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Marcello Scala

Showing results (101-110 of 155) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
American Journal of Medical Genetics. Part A|August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Journal of the Neurological Sciences|March 27, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlationsAntonella Riva, Alessandro Orsini, Marcello Scala, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
Pageof 16

Showing results (101-110 of 155) with videos related to

Sort By:
Pageof 16
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in <i>DDX53</i> contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
American Journal of Medical Genetics. Part A|August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalitiesMarcello Scala, Kamal Khan, Claire Beneteau, et al.
Brain : a Journal of Neurology|July 25, 2020
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variantsCaroline Neuray, Reza Maroofian, Marcello Scala, et al.
Journal of the Neurological Sciences|March 27, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlationsAntonella Riva, Alessandro Orsini, Marcello Scala, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Brain : a Journal of Neurology|June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletionJeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
Human Molecular Genetics|November 9, 2023
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variantsJames P Allen, Kathryn B Garber, Riley Perszyk, et al.
Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
Pageof 16