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Marcello Scala

Showing results (81-90 of 155) with videos related to

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Human Mutation|December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Frontiers in Neuroscience|June 26, 2020
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical DevelopmentMichele Iacomino, Simona Baldassari, Yuki Tochigi, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
European Journal of Human Genetics : EJHG|March 26, 2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcificationsMarcello Scala, Nancy C P Leong, Thanh Nha Uyen Le, et al.
Communications Biology|July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelYeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
Cancers|March 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>Marzia Ognibene, Marcello Scala, Michele Iacomino, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
Pageof 16

Showing results (81-90 of 155) with videos related to

Sort By:
Pageof 16
Human Mutation|December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital MyopathyNami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
European Journal of Human Genetics : EJHG|January 4, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaMonica Traverso, Serena Baratto, Michele Iacomino, et al.
Frontiers in Neuroscience|June 26, 2020
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical DevelopmentMichele Iacomino, Simona Baldassari, Yuki Tochigi, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
European Journal of Human Genetics : EJHG|March 26, 2025
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcificationsMarcello Scala, Nancy C P Leong, Thanh Nha Uyen Le, et al.
Communications Biology|July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelYeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
Cancers|March 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>Marzia Ognibene, Marcello Scala, Michele Iacomino, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
HGG Advances|April 11, 2026
Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye SyndromeAnushree Acharya, Irma Järvelä, Andrea Hernandez, et al.
Pageof 16