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Lucia Micale

Showing results (11-20 of 72) with videos related to

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Journal of Human Genetics|April 18, 2007
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaLucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, et al.
Pediatric Research|August 11, 2022
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 geneLucia Micale, Federica Russo, Martina Mascaro, et al.
Genes|December 24, 2021
Gonosomal Mosaicism for a Novel <i>COL5A1</i> Pathogenic Variant in Classic Ehlers-Danlos SyndromeLucia Micale, Thomas Foiadelli, Federica Russo, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseLucia Micale, Carmela Fusco, Bartolomeo Augello, et al.
Journal of Biomedicine & Biotechnology|February 11, 2010
VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell lineLucia Micale, Lucia Anna Muscarella, Marco Marzulli, et al.
Genes|June 24, 2022
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in <i>Pdcd10</i>-Depleted Mouse Endothelial CellsCarmela Fusco, Grazia Nardella, Lucio Di Filippo, et al.
Plos One|April 1, 2015
Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegationPatrizia Tritto, Valeria Palumbo, Lucia Micale, et al.
Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Genetic Testing and Molecular Biomarkers|July 17, 2009
GPR143 mutational analysis in two Italian families with X-linked ocular albinismLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Genes|November 29, 2019
Novel <i>TNXB</i> Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeLucia Micale, Vito Guarnieri, Bartolomeo Augello, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
Journal of Human Genetics|April 18, 2007
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytomaLucia Anna Muscarella, Raffaela Barbano, Bartolomeo Augello, et al.
Pediatric Research|August 11, 2022
Opitz syndrome: improving clinical interpretation of intronic variants in MID1 geneLucia Micale, Federica Russo, Martina Mascaro, et al.
Genes|December 24, 2021
Gonosomal Mosaicism for a Novel <i>COL5A1</i> Pathogenic Variant in Classic Ehlers-Danlos SyndromeLucia Micale, Thomas Foiadelli, Federica Russo, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligaseLucia Micale, Carmela Fusco, Bartolomeo Augello, et al.
Journal of Biomedicine & Biotechnology|February 11, 2010
VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell lineLucia Micale, Lucia Anna Muscarella, Marco Marzulli, et al.
Genes|June 24, 2022
Transcriptome Analysis Reveals Altered Expression of Genes Involved in Hypoxia, Inflammation and Immune Regulation in <i>Pdcd10</i>-Depleted Mouse Endothelial CellsCarmela Fusco, Grazia Nardella, Lucio Di Filippo, et al.
Plos One|April 1, 2015
Loss of Pol32 in Drosophila melanogaster causes chromosome instability and suppresses variegationPatrizia Tritto, Valeria Palumbo, Lucia Micale, et al.
Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.
Genetic Testing and Molecular Biomarkers|July 17, 2009
GPR143 mutational analysis in two Italian families with X-linked ocular albinismLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Genes|November 29, 2019
Novel <i>TNXB</i> Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeLucia Micale, Vito Guarnieri, Bartolomeo Augello, et al.
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