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Pinella Failla

Showing results (1-10 of 24) with videos related to

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Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|May 22, 2018
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopyCarmelo Schepis, Pinella Failla, Maddalena Siragusa, et al.
Dermatology Online Journal|September 8, 2020
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratodermaFrancesco Calì, Pinella Failla, Mirella Vinci, et al.
European Journal of Dermatology : EJD|April 22, 2010
An unusual presentation of Becker NevusCarmelo Schepis, Maria Lentini, Pinella Failla, et al.
Down'S Syndrome, Research and Practice : the Journal of the Sarah Duffen Centre|March 28, 2002
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?Corrado Romano, Rosa Pettinato, Letizia Ragusa, et al.
European Journal of Dermatology : EJD|February 6, 2018
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosisCarmelo Schepis, Pinella Failla, Maddalena Siragusa, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
12q12 deletion: a new patient contributing to genotype-phenotype correlationPinella Failla, Corrado Romano, Santina Reitano, et al.
International Journal of Molecular Sciences|January 8, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES AnalysisPinella Failla, Lucia Saccuzzo, Ornella Galesi, et al.
Genes & Genomics|February 22, 2023
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genesMartina Miceli, Pinella Failla, Lucia Saccuzzo, et al.
Gene|November 9, 2025
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviorsMirella Vinci, Simone Treccarichi, Pinella Failla, et al.
Medicina (Kaunas, Lithuania)|July 30, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated VariantsVittoria Greco, Donatella Greco, Simone Treccarichi, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia|May 22, 2018
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopyCarmelo Schepis, Pinella Failla, Maddalena Siragusa, et al.
Dermatology Online Journal|September 8, 2020
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratodermaFrancesco Calì, Pinella Failla, Mirella Vinci, et al.
European Journal of Dermatology : EJD|April 22, 2010
An unusual presentation of Becker NevusCarmelo Schepis, Maria Lentini, Pinella Failla, et al.
Down'S Syndrome, Research and Practice : the Journal of the Sarah Duffen Centre|March 28, 2002
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?Corrado Romano, Rosa Pettinato, Letizia Ragusa, et al.
European Journal of Dermatology : EJD|February 6, 2018
An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosisCarmelo Schepis, Pinella Failla, Maddalena Siragusa, et al.
American Journal of Medical Genetics. Part A|April 17, 2008
12q12 deletion: a new patient contributing to genotype-phenotype correlationPinella Failla, Corrado Romano, Santina Reitano, et al.
International Journal of Molecular Sciences|January 8, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES AnalysisPinella Failla, Lucia Saccuzzo, Ornella Galesi, et al.
Genes & Genomics|February 22, 2023
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genesMartina Miceli, Pinella Failla, Lucia Saccuzzo, et al.
Gene|November 9, 2025
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviorsMirella Vinci, Simone Treccarichi, Pinella Failla, et al.
Medicina (Kaunas, Lithuania)|July 30, 2025
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated VariantsVittoria Greco, Donatella Greco, Simone Treccarichi, et al.
Pageof 3