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Carlo Fusco

Showing results (111-120 of 149) with videos related to

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International Journal of Molecular Sciences|May 27, 2026
Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre CohortEmanuela Claudia Turco, Giulia Pisanò, Laura Caiazza, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|January 29, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignetteAgnese Pantani, Susanna Rizzi, Carlotta Spagnoli, et al.
Oncology Reports|December 7, 2002
P16 hypermethylation contributes to the characterization of gene inactivation profiles in primary gastric cancerCorrado Ficorella, Katia Cannita, Enrico Ricevuto, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Genes|September 28, 2023
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental DisordersSusanna Rizzi, Carlotta Spagnoli, Melissa Bellini, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Pageof 15

Showing results (111-120 of 149) with videos related to

Sort By:
Pageof 15
International Journal of Molecular Sciences|May 27, 2026
Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre CohortEmanuela Claudia Turco, Giulia Pisanò, Laura Caiazza, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|January 29, 2025
Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignetteAgnese Pantani, Susanna Rizzi, Carlotta Spagnoli, et al.
Oncology Reports|December 7, 2002
P16 hypermethylation contributes to the characterization of gene inactivation profiles in primary gastric cancerCorrado Ficorella, Katia Cannita, Enrico Ricevuto, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
American Journal of Medical Genetics. Part A|September 5, 2024
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literatureChiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, et al.
Journal of Clinical Medicine|January 10, 2026
Feeding-Triggered Seizures in a Newborn with <i>AP1S1</i>-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare DiseaseAnna Cavalli, Francesca Peluso, Daniele Frattini, et al.
Genes|September 28, 2023
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental DisordersSusanna Rizzi, Carlotta Spagnoli, Melissa Bellini, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Pageof 15