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Mirella Bruttini

Showing results (11-20 of 42) with videos related to

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Pediatric Nephrology (Berlin, Germany)|March 8, 2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Vera Uliana, Elena Marcocci, Mafalda Mucciolo, et al.
Frontiers in Genetics|February 10, 2023
Corrigendum: Spondyloocular syndrome: A novel <i>XYLT2</i> variant with description of the neonatal phenotypeGabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, et al.
Frontiers in Genetics|December 20, 2021
Spondyloocular Syndrome: A Novel <i>XYLT2</i> Variant with Description of the Neonatal PhenotypeGabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, et al.
Cells|December 23, 2022
Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical OutcomesMargherita Baldassarri, Kristina Zguro, Valeria Tomati, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 13, 2019
Aging-associated genes and <i>let-7</i> microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophyCristina Cappelletti, Barbara Galbardi, Mirella Bruttini, et al.
European Journal of Human Genetics : EJHG|September 8, 2011
Advances in Alport syndrome diagnosis using next-generation sequencingRosangela Artuso, Chiara Fallerini, Laura Dosa, et al.
Human Mutation|November 15, 2018
Evidence of predisposing epimutation in retinoblastomaElisa Gelli, Anna Maria Pinto, Serena Somma, et al.
Journal of Human Genetics|February 8, 2006
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutationsKatia Sampieri, Theodora Hadjistilianou, Francesca Mari, et al.
Acta Oncologica (Stockholm, Sweden)|September 12, 2008
Genomic differences between retinoma and retinoblastomaKatia Sampieri, Maria Antonietta Mencarelli, Maria Carmela Epistolato, et al.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Pediatric Nephrology (Berlin, Germany)|March 8, 2011
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2Vera Uliana, Elena Marcocci, Mafalda Mucciolo, et al.
Frontiers in Genetics|February 10, 2023
Corrigendum: Spondyloocular syndrome: A novel <i>XYLT2</i> variant with description of the neonatal phenotypeGabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, et al.
Frontiers in Genetics|December 20, 2021
Spondyloocular Syndrome: A Novel <i>XYLT2</i> Variant with Description of the Neonatal PhenotypeGabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, et al.
Cells|December 23, 2022
Gain- and Loss-of-Function <i>CFTR</i> Alleles Are Associated with COVID-19 Clinical OutcomesMargherita Baldassarri, Kristina Zguro, Valeria Tomati, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 13, 2019
Aging-associated genes and <i>let-7</i> microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophyCristina Cappelletti, Barbara Galbardi, Mirella Bruttini, et al.
European Journal of Human Genetics : EJHG|September 8, 2011
Advances in Alport syndrome diagnosis using next-generation sequencingRosangela Artuso, Chiara Fallerini, Laura Dosa, et al.
Human Mutation|November 15, 2018
Evidence of predisposing epimutation in retinoblastomaElisa Gelli, Anna Maria Pinto, Serena Somma, et al.
Journal of Human Genetics|February 8, 2006
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutationsKatia Sampieri, Theodora Hadjistilianou, Francesca Mari, et al.
Acta Oncologica (Stockholm, Sweden)|September 12, 2008
Genomic differences between retinoma and retinoblastomaKatia Sampieri, Maria Antonietta Mencarelli, Maria Carmela Epistolato, et al.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
Pageof 5