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Michele Valiante

Showing results (11-20 of 21) with videos related to

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Genes|July 27, 2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <i>CHM</i> In-Frame Variants Exert a Dominant Negative Effect? A Case ReportNiccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, et al.
Dermatology Online Journal|September 17, 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndromeIrene Bottillo, Michele Valiante, Lucia Menale, et al.
International Journal of Molecular Sciences|February 25, 2023
Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular ModelingElisa Adele Colombo, Michele Valiante, Matteo Uggeri, et al.
Clinical Genetics|December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndromeSilvia Majore, Emanuele Agolini, Lucia Micale, et al.
American Journal of Medical Genetics. Part A|October 24, 2014
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Chiara Dordoni, Michele Valiante, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 7, 2015
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeMarco Castori, Chiara Dordoni, Silvia Morlino, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 21, 2017
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosisSilvia Majore, Maria Carmela Bonaccorsi di Patti, Michele Valiante, et al.
European Journal of Human Genetics : EJHG|December 18, 2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?Irene Bottillo, Emanuele Savino, Silvia Majore, et al.
International Journal of Molecular Sciences|December 16, 2020
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition GenesPaola De Simone, Irene Bottillo, Michele Valiante, et al.
Genes, Chromosomes & Cancer|October 20, 2018
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genesMarta Betti, Anna Aspesi, Daniela Ferrante, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Genes|July 27, 2022
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could <i>CHM</i> In-Frame Variants Exert a Dominant Negative Effect? A Case ReportNiccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, et al.
Dermatology Online Journal|September 17, 2020
A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndromeIrene Bottillo, Michele Valiante, Lucia Menale, et al.
International Journal of Molecular Sciences|February 25, 2023
Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular ModelingElisa Adele Colombo, Michele Valiante, Matteo Uggeri, et al.
Clinical Genetics|December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndromeSilvia Majore, Emanuele Agolini, Lucia Micale, et al.
American Journal of Medical Genetics. Part A|October 24, 2014
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Chiara Dordoni, Michele Valiante, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 7, 2015
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeMarco Castori, Chiara Dordoni, Silvia Morlino, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|November 21, 2017
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosisSilvia Majore, Maria Carmela Bonaccorsi di Patti, Michele Valiante, et al.
European Journal of Human Genetics : EJHG|December 18, 2022
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?Irene Bottillo, Emanuele Savino, Silvia Majore, et al.
International Journal of Molecular Sciences|December 16, 2020
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition GenesPaola De Simone, Irene Bottillo, Michele Valiante, et al.
Genes, Chromosomes & Cancer|October 20, 2018
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genesMarta Betti, Anna Aspesi, Daniela Ferrante, et al.
Pageof 3