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Concetta Simona Perrotta

Showing results (1-10 of 7) with videos related to

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Orphanet Journal of Rare Diseases|March 10, 2009
Jacobsen syndromeTeresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Genes|October 28, 2023
Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech ImpairmentMario Benvenuto, Pietro Palumbo, Ester Di Muro, et al.
Diagnostics (Basel, Switzerland)|October 16, 2025
Dysregulation of miRNAs in Sicilian Patients with Huntington's DiseaseMichele Salemi, Francesca Antonia Schillaci, Maria Grazia Salluzzo, et al.
Molecular Biology Reports|October 9, 2023
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, et al.
Journal of Clinical Medicine|August 28, 2025
Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort StudyMaddalena Casale, Giuseppe Toro, Federica Porcelli, et al.
Diagnostics (Basel, Switzerland)|February 26, 2025
Transcriptome Study in Sicilian Patients with Huntington's DiseaseMichele Salemi, Vincenzo Di Stefano, Francesca A Schillaci, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literatureTjitske Kleefstra, Nicole de Leeuw, Roy Wolf, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|March 10, 2009
Jacobsen syndromeTeresa Mattina, Concetta Simona Perrotta, Paul Grossfeld
Genes|October 28, 2023
Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech ImpairmentMario Benvenuto, Pietro Palumbo, Ester Di Muro, et al.
Diagnostics (Basel, Switzerland)|October 16, 2025
Dysregulation of miRNAs in Sicilian Patients with Huntington's DiseaseMichele Salemi, Francesca Antonia Schillaci, Maria Grazia Salluzzo, et al.
Molecular Biology Reports|October 9, 2023
NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)Michele Salemi, Luana G M Mandarà, Maria Grazia Salluzzo, et al.
Journal of Clinical Medicine|August 28, 2025
Oxford Hip and Shoulder Scores as Potential Tools for the Early Detection of Avascular Necrosis in Apparently Unaffected Sites in Sickle Cell Disease: Results from a Prospective Cohort StudyMaddalena Casale, Giuseppe Toro, Federica Porcelli, et al.
Diagnostics (Basel, Switzerland)|February 26, 2025
Transcriptome Study in Sicilian Patients with Huntington's DiseaseMichele Salemi, Vincenzo Di Stefano, Francesca A Schillaci, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literatureTjitske Kleefstra, Nicole de Leeuw, Roy Wolf, et al.
Pageof 1