ISIDORI, FEDERICA

ISIDORI, FEDERICA  

DIPARTIMENTO DI MEDICINA SPECIALISTICA, DIAGNOSTICA E SPERIMENTALE  

Dottorandi  

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Risultati 1 - 9 di 9 (tempo di esecuzione: 0.019 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Be...rgamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C; Aronica, Eleonora M; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A M; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto 2021-01-01 BRAIN - 1.01 Articolo in rivista -
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature Graziano, Claudio; Gusson, Elena; Severi, Giulia; Isidori, Federica; Wischmeijer, Anita; Brugnara..., Milena; Seri, Marco; Rossi, Cesare 2017-01-01 OPHTHALMIC GENETICS - 1.01 Articolo in rivista -
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report Isidori, Federica; Malvi, Deborah; Fittipaldi, Silvia; Forcato, Claudio; Bozzarelli, Isotta; Sala..., Claudia; Raulli, Giovanni; D'Errico, Antonia; Fiorentino, Michelangelo; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro; Lugaresi, Maria Luisa; Castellani, Gastone; Fiocca, Roberto; Mastracci, Luca; Räsänen, Jari; Söderström, Henna 2018-01-01 BMC CANCER - 1.01 Articolo in rivista Isidori2018.pdf
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. 2019-01-01 CYTOGENETIC AND GENOME RESEARCH - 1.01 Articolo in rivista -
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer Diquigiovanni, Chiara; Bergamini, Christian; Evangelisti, Cecilia; Isidori, Federica; Vettori, An...drea; Tiso, Natascia; Argenton, Francesco; Costanzini, Anna; Iommarini, Luisa; Anbunathan, Hima; Pagotto, Uberto; Repaci, Andrea; Babbi, Giulia; Casadio, Rita; Lenaz, Giorgio; Rhoden, Kerry J.; Porcelli, Anna Maria; Fato, Romana; Bowcock, Anne; Seri, Marco; Romeo, Giovanni; Bonora, Elena 2018-01-01 INTERNATIONAL JOURNAL OF CANCER - 1.01 Articolo in rivista int journal cancer.pdf
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. Graziano C, Despang P, Palombo F, Severi G, Posar A, Cassio A, Pippucci T, Isidori F, Matthes J, ...Bonora E. 2021-01-01 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS - 1.01 Articolo in rivista -
Rasal1 and ros1 gene variants in hereditary breast cancer Isidori F.; Bozzarelli I.; Ferrari S.; Godino L.; Innella G.; Turchetti D.; Bonora E. 2020-01-01 CANCERS - 1.01 Articolo in rivista cancers-12-02539-v2.pdfcancers-12-02539-s001.pdf
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role Tortora, Giada; Anita, Wischmeijer; Berretta, Paolo; Alfonsi, Jacopo; Di Marco, Luca; Barbieri, A...ndrea; Marconi, Caterina; Isidori, Federica; Rossi, Cesare; Leone, Ornella; Di Bartolomeo, Roberto; Seri, Marco; Pacini, Davide 2017-01-01 INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY - 1.01 Articolo in rivista -
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Mol...inari, Chiara; Söderström, Henna; Räsänen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro 2020-01-01 CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY - 1.01 Articolo in rivista Targeted_Sequencing_of_Sorted_Esophageal.14.pdfct9-11-e00202-s004.docxct9-11-e00202-s001.jpgct9-11-e00202-s002.pdfct9-11-e00202-s003.pdfct9-11-e00202-s005.pdf