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Marcello Scala

Showing results (71-80 of 155) with videos related to

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Neuroradiology|April 22, 2022
Spinal involvement in pediatric familial cavernous malformation syndromeAna Filipa Geraldo, Aysha Luis, Cesar Augusto P F Alves, et al.
The Journal of Investigative Dermatology|February 28, 2025
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair QualitySofia Brito, Gunwoo Park, Gang Hyoung Lee, et al.
Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
International Journal of Molecular Sciences|April 30, 2021
Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma SpectrumAntonella Riva, Antonella Gambadauro, Valeria Dipasquale, et al.
Brain Communications|September 24, 2021
Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease courseReza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, et al.
Neuropediatrics|October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra SyndromeThea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
Neuroradiology|October 5, 2022
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort studyAna Filipa Geraldo, Cesar Augusto P F Alves, Aysha Luis, et al.
European Journal of Medical Genetics|March 25, 2026
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypesMohammad Sadegh Shams Nosrati, Ferruccio Romano, Alireza Dostmohammadi, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Italian Journal of Pediatrics|July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' projectElisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.
Pageof 16

Showing results (71-80 of 155) with videos related to

Sort By:
Pageof 16
Neuroradiology|April 22, 2022
Spinal involvement in pediatric familial cavernous malformation syndromeAna Filipa Geraldo, Aysha Luis, Cesar Augusto P F Alves, et al.
The Journal of Investigative Dermatology|February 28, 2025
Zinc Transporter ZIP13 G289R Variant from Spondylocheirodysplastic Ehlers-Danlos Syndrome Is Associated with Abnormal Hair QualitySofia Brito, Gunwoo Park, Gang Hyoung Lee, et al.
Neuromuscular Disorders : NMD|September 24, 2023
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14Gianmarco Severa, Alessandra Pennisi, Christine Barnerias, et al.
International Journal of Molecular Sciences|April 30, 2021
Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma SpectrumAntonella Riva, Antonella Gambadauro, Valeria Dipasquale, et al.
Brain Communications|September 24, 2021
Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease courseReza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, et al.
Neuropediatrics|October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra SyndromeThea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
Neuroradiology|October 5, 2022
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort studyAna Filipa Geraldo, Cesar Augusto P F Alves, Aysha Luis, et al.
European Journal of Medical Genetics|March 25, 2026
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypesMohammad Sadegh Shams Nosrati, Ferruccio Romano, Alireza Dostmohammadi, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Italian Journal of Pediatrics|July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' projectElisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.
Pageof 16