المؤلفون: Matteo Bianco, Noemi Giordano, Valentina Gazzola, Carloalberto Biolè, Giulia Nangeroni, Maurizio Lazzero, Giulia Margherita Brach del Prever, Fiorenza Mioli, Giulia Gobello, Amir Hassan Mousavi, Monica Guidante, Silvia Deaglio, Daniela Francesca Giachino, Alessandra Chinaglia

المصدر: Cardiogenetics, Vol 14, Iss 3, Pp 122-131 (2024)

مصطلحات موضوعية: cardiomyopathies, genetic testing, next generation sequencing (NGS), Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2035-8148/14/3/10; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/312ae3aa402e4e2ca8aa6ae436e2d5f3

المؤلفون: Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-13 (2023)

مصطلحات موضوعية: Clinical exome sequencing, Next-generation sequencing, Kidney Diseases, Liver Diseases, Genetic re-analysis, Variant re-classification, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/1e7a2209db66432fa0f2f4bd0da27469

المؤلفون: Tiziana Vaisitti, Valeria Bracciamà, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Martina Callegari, Silvia Kalantari, Fiorenza Mioli, Carmelo Maria Romeo, Maria Luca, Roberta Camilla, Francesca Mattozzi, Bruno Gianoglio, Licia Peruzzi, Antonio Amoroso, Silvia Deaglio

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Clinical exome sequencing, Next-generation sequencing, Kidney diseases, Genetic testing, Pediatric cohort, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/eff76b82f23141299a1db39c6dc4dfb5

المؤلفون: Angelo Corso Faini, Francesca Arruga, Michele Pinon, Valeria Bracciamà, Francesco Edoardo Vallone, Fiorenza Mioli, Monica Sorbini, Martina Migliorero, Alessandro Gambella, Damiano Carota, Isaac Giraudo, Paola Cassoni, Silvia Catalano, Renato Romagnoli, Antonio Amoroso, Pier Luigi Calvo, Tiziana Vaisitti, Silvia Deaglio

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 19, p 10483 (2024)

مصطلحات موضوعية: HNF1A, hepatic adenomas, liver, molecular signature, genetics, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/19/10483; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/76c039fb1f534cec94aa4fcf365945eb

الاتاحة: https://doi.org/10.3390/ijms251910483
https://doaj.org/article/76c039fb1f534cec94aa4fcf365945eb

المؤلفون: Claudia Saglia, Valeria Bracciamà, Luca Trotta, Fiorenza Mioli, Angelo Corso Faini, Giulia Margherita Brach Del Prever, Silvia Kalantari, Maria Luca, Carmelo Maria Romeo, Caterina Scolari, Licia Peruzzi, Pier Luigi Calvo, Alessandro Mussa, Roberta Fenoglio, Dario Roccatello, Claudio Alberti, Diana Carli, Antonio Amoroso, Silvia Deaglio, Tiziana Vaisitti

مصطلحات موضوعية: Genetics, Clinical exome sequencing, Next-generation sequencing, Kidney Diseases, Liver Diseases, Genetic re-analysis, Variant re-classification, Re-alignment

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Relevance_of_next_generation_sequencing_NGS_data_re-analysis_in_the_diagnosis_of_monogenic_diseases_leading_to_organ_failure/24647105

الاتاحة: https://doi.org/10.6084/m9.figshare.24647105.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Relevance_of_next_generation_sequencing_NGS_data_re-analysis_in_the_diagnosis_of_monogenic_diseases_leading_to_organ_failure/24647105

المؤلفون: Monica Sorbini, Gabriele Togliatto, Fiorenza Mioli, Erika Simonato, Matteo Marro, Margherita Cappuccio, Francesca Arruga, Cristiana Caorsi, Morteza Mansouri, Paola Magistroni, Alessandro Gambella, Luisa Delsedime, Mauro Giulio Papotti, Paolo Solidoro, Carlo Albera, Massimo Boffini, Mauro Rinaldi, Antonio Amoroso, Tiziana Vaisitti, Silvia Deaglio

المصدر: Transplant international : official journal of the European Society for Organ Transplantation. 35

مصطلحات موضوعية: Graft Rejection, Transplantation, Cost-Benefit Analysis, acute rejection, Tissue Donors, Transplant Recipients, droplet-digital PCR, lung transplantation, biomarker, Humans, cell free circulating DNA, Cell-Free Nucleic Acids, Lung

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c368b757179f0cc8a7efa4d18b4465e4
https://pubmed.ncbi.nlm.nih.gov/35755857