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Barbara Pasini

Showing results (71-80 of 96) with videos related to

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Journal of the American Academy of Dermatology|June 9, 2009
Clinical genetic testing for familial melanoma in Italy: a cooperative studyWilliam Bruno, Paola Ghiorzo, Linda Battistuzzi, et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension|October 6, 2019
Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, ItalyMirko Parasiliti-Caprino, Barbara Lucatello, Chiara Lopez, et al.
European Journal of Human Genetics : EJHG|March 6, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genesChiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
Cancers|February 12, 2021
Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern ItalyGisella Figlioli, Arcangela De Nicolo, Irene Catucci, et al.
International Journal of Cancer|June 30, 2005
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriersCarey A Cullinane, Jan Lubinski, Susan L Neuhausen, et al.
American Journal of Human Genetics|October 21, 2023
Identification of a robust DNA methylation signature for Fanconi anemiaDaria Pagliara, Andrea Ciolfi, Lucia Pedace, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Cancer Medicine|August 28, 2024
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical managementGiovanni Innella, Cristina Fortuno, Laura Caleca, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.
Pageof 10

Showing results (71-80 of 96) with videos related to

Sort By:
Pageof 10
Journal of the American Academy of Dermatology|June 9, 2009
Clinical genetic testing for familial melanoma in Italy: a cooperative studyWilliam Bruno, Paola Ghiorzo, Linda Battistuzzi, et al.
Hypertension Research : Official Journal of the Japanese Society of Hypertension|October 6, 2019
Predictors of recurrence of pheochromocytoma and paraganglioma: a multicenter study in Piedmont, ItalyMirko Parasiliti-Caprino, Barbara Lucatello, Chiara Lopez, et al.
European Journal of Human Genetics : EJHG|March 6, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genesChiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
Cancers|February 12, 2021
Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern ItalyGisella Figlioli, Arcangela De Nicolo, Irene Catucci, et al.
International Journal of Cancer|June 30, 2005
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriersCarey A Cullinane, Jan Lubinski, Susan L Neuhausen, et al.
American Journal of Human Genetics|October 21, 2023
Identification of a robust DNA methylation signature for Fanconi anemiaDaria Pagliara, Andrea Ciolfi, Lucia Pedace, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
Cancer Medicine|August 28, 2024
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical managementGiovanni Innella, Cristina Fortuno, Laura Caleca, et al.
Human Genetics|April 20, 2023
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobilityMaria Pia Leone, Silvia Morlino, Grazia Nardella, et al.
Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.
Pageof 10