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Diego Vozzi

Showing results (21-30 of 41) with videos related to

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Frontiers in Genetics|March 8, 2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal DisturbancesMaria Cerminara, Giovanni Spirito, Livia Pisciotta, et al.
Molecular Vision|July 9, 2011
Molecular epidemiology of Usher syndrome in ItalyDiego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disabilityIlaria Gandin, Flavio Faletra, Francesca Faletra, et al.
Molecular Syndromology|November 2, 2023
Novel <i>SYNGAP1</i> Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome SequencingGiulia Rosti, Silvia Boeri, Maria Teresa Divizia, et al.
Nature Communications|August 17, 2023
LINE-1 regulates cortical development by acting as long non-coding RNAsDamiano Mangoni, Alessandro Simi, Pierre Lau, et al.
Mutation Research|September 29, 2015
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disabilityAnna Morgan, Ilaria Gandin, Chiara Belcaro, et al.
Plos One|September 7, 2012
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based proceduresDanilo Licastro, Margherita Mutarelli, Ivana Peluso, et al.
Clinical Immunology (Orlando, Fla.)|August 29, 2021
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)Riccardo Papa, Marta Rusmini, Francesca Schena, et al.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, 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.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Frontiers in Genetics|March 8, 2021
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal DisturbancesMaria Cerminara, Giovanni Spirito, Livia Pisciotta, et al.
Molecular Vision|July 9, 2011
Molecular epidemiology of Usher syndrome in ItalyDiego Vozzi, Anu Aaspõllu, Emmanouil Athanasakis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disabilityIlaria Gandin, Flavio Faletra, Francesca Faletra, et al.
Molecular Syndromology|November 2, 2023
Novel <i>SYNGAP1</i> Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome SequencingGiulia Rosti, Silvia Boeri, Maria Teresa Divizia, et al.
Nature Communications|August 17, 2023
LINE-1 regulates cortical development by acting as long non-coding RNAsDamiano Mangoni, Alessandro Simi, Pierre Lau, et al.
Mutation Research|September 29, 2015
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disabilityAnna Morgan, Ilaria Gandin, Chiara Belcaro, et al.
Plos One|September 7, 2012
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based proceduresDanilo Licastro, Margherita Mutarelli, Ivana Peluso, et al.
Clinical Immunology (Orlando, Fla.)|August 29, 2021
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD)Riccardo Papa, Marta Rusmini, Francesca Schena, et al.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, 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.
Pageof 5