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Maria Rossing

Showing results (111-120 of 127) with videos related to

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Nucleic Acids Research|December 22, 2019
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research|May 12, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|June 11, 2021
Frequency and Prognostic Impact of <i>ALK</i> Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1)Angela Bellini, Ulrike Pötschger, Virginie Bernard, et al.
NPJ Breast Cancer|September 23, 2020
Association of germline variation with the survival of women with <i>BRCA1/2</i> pathogenic variants and breast cancerTaru A Muranen, Sofia Khan, Rainer Fagerholm, et al.
The Journal of Molecular Diagnostics : JMD|October 19, 2025
Harmonization of Reporting of ALK Genetic Alterations in Neuroblastoma: A SIOPEN Biology StudyAlexandra Saint-Charles, Julien Masliah-Planchon, Elnaz Saberi-Ansari, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Cancers|January 30, 2020
The Spectrum of <i>FANCM</i> Protein Truncating Variants in European Breast Cancer CasesGisella Figlioli, Anders Kvist, Emma Tham, et al.
JCO Precision Oncology|September 14, 2019
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working GroupSarah M Nielsen, Diana M Eccles, Iris L Romero, et al.
Pageof 13

Showing results (111-120 of 127) with videos related to

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Pageof 13
Nucleic Acids Research|December 22, 2019
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research|May 12, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|June 11, 2021
Frequency and Prognostic Impact of <i>ALK</i> Amplifications and Mutations in the European Neuroblastoma Study Group (SIOPEN) High-Risk Neuroblastoma Trial (HR-NBL1)Angela Bellini, Ulrike Pötschger, Virginie Bernard, et al.
NPJ Breast Cancer|September 23, 2020
Association of germline variation with the survival of women with <i>BRCA1/2</i> pathogenic variants and breast cancerTaru A Muranen, Sofia Khan, Rainer Fagerholm, et al.
The Journal of Molecular Diagnostics : JMD|October 19, 2025
Harmonization of Reporting of ALK Genetic Alterations in Neuroblastoma: A SIOPEN Biology StudyAlexandra Saint-Charles, Julien Masliah-Planchon, Elnaz Saberi-Ansari, et al.
Human Mutation|August 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approachMads Thomassen, Romy L S Mesman, Thomas V O Hansen, et al.
Cancers|January 30, 2020
The Spectrum of <i>FANCM</i> Protein Truncating Variants in European Breast Cancer CasesGisella Figlioli, Anders Kvist, Emma Tham, et al.
JCO Precision Oncology|September 14, 2019
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working GroupSarah M Nielsen, Diana M Eccles, Iris L Romero, et al.
Pageof 13