Arama Sonuçları - Ursini, Matilde Valeria

The LCR at the IKBKG Locus Is Prone to Recombine Yazar: Fusco, Francesca, D'Urso, Michele, Miano, Maria Giuseppina, Ursini, Matilde Valeria

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NEMO regulates a cell death switch in TNF signaling by inhibiting recruitment of RIPK3 to the cell death-inducing complex II Yazar: Pescatore, Alessandra, Esposito, Elio, Draber, Peter, Walczak, Henning, Ursini, Matilde Valeria

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Functional Characterization of Wiskott-Aldrich Syndrome Protein and Scar Homolog (WASH), a Bi-modular Nucleation-promoting Factor Able to Interact with Biogenesis of Lysosome-relat... Yazar: Monfregola, Jlenia, Napolitano, Gennaro, D'Urso, Michele, Lappalainen, Pekka, Ursini, Matilde Valeria

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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report Yazar: Miano, Maria Giuseppina, Laperuta, Carmela, Chiurazzi, Pietro, D'Urso, Michele, Ursini, Matilde Valeria

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Clinical Utility Gene Card for: incontinentia pigmenti Yazar: Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Royer, Ghislaine, Bonnefont, Jean-Paul, Ursini, Matilde Valeria

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The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide Yazar: Fusco, Francesca, Valente, Valeria, Fergola, Dario, Pescatore, Alessandra, Lioi, Maria Brigida, Ursini, Matilde Valeria

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Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male Yazar: Pescatore, Alessandra, Spinosa, Ezia, Casale, Carmela, Lioi, Maria Brigida, Ursini, Matilde Valeria, Fusco, Francesca

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Life, death, and autophagy in cancer: NF-κB turns up everywhere Yazar: Verzella, Daniela, Pescatore, Alessandra, Capece, Daria, Vecchiotti, Davide, Ursini, Matilde Valeria, Franzoso, Guido, Alesse, Edoardo, Zazzeroni, Francesca

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Clinical utility gene card: for incontinentia pigmenti Yazar: Fusco, Francesca, Pescatore, Alessandra, Steffann, Julie, Bonnefont, Jean-Paul, De Oliveira, Judite, Lioi, Maria Brigida, Ursini, Matilde Valeria

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Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels Yazar: Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio

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Incontinentia pigmenti: report on data from 2000 to 2013 Yazar: Fusco, Francesca, Paciolla, Mariateresa, Conte, Matilde Immacolata, Pescatore, Alessandra, Esposito, Elio, Mirabelli, Peppino, Lioi, Maria Brigida, Ursini, Matilde Valeria

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Rare Mendelian Primary Immunodeficiency diseases associated to impaired NF-κB signaling Yazar: Paciolla, Mariateresa, Pescatore, Alessandra, Conte, Matilde Immacolata, Esposito, Elio, Incoronato, Mariarosaria, Lioi, Maria Brigida, Fusco, Francesca, Ursini, Matilde Valeria

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Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease Yazar: Pizzamiglio, Maria Rosa, Piccardi, Laura, Bianchini, Filippo, Canzano, Loredana, Palermo, Liana, Fusco, Francesca, D'Antuono, Giovanni, Gelmini, Chiara, Garavelli, Livia, Ursini, Matilde Valeria

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Hyper IgM syndrome presenting as chronic suppurative lung disease Yazar: Montella, Silvia, Maglione, Marco, Giardino, Giuliana, Di Giorgio, Angela, Palamaro, Loredana, Mirra, Virginia, Ursini, Matilde Valeria, Salerno, Mariacarolina, Pignata, Claudio, Caffarelli, Carlo, Santamaria, Francesca

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The R156H variation in IL-12Rβ1 is not a mutation Yazar: van de Vosse, Esther, van Dissel, Jaap T, Palamaro, Loredana, Giardino, Giuliana, Santamaria, Francesca, Romano, Rosa, Fusco, Anna, Montella, Silvia, Salerno, Mariacarolina, Ursini, Matilde Valeria, Pignata, Claudio

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Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells Yazar: Cuomo, Francesca, Coppola, Antonietta, Botti, Chiara, Maione, Ciro, Forte, Amalia, Scisciola, Lucia, Liguori, Giuseppina, Caiafa, Ilaria, Ursini, Matilde Valeria, Galderisi, Umberto, Cipollaro, Marilena, Altucci, Lucia, Cobellis, Gilda

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Author Correction: Pro-inflammatory cytokines activate hypoxia-inducible factor 3α via epigenetic changes in mesenchymal stromal/stem cells Yazar: Cuomo, Francesca, Coppola, Antonietta, Botti, Chiara, Maione, Ciro, Forte, Amalia, Scisciola, Lucia, Liguori, Giuseppina, Caiafa, Ilaria, Ursini, Matilde Valeria, Galderisi, Umberto, Cipollaro, Marilena, Altucci, Lucia, Cobellis, Gilda

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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions Yazar: Laperuta, Carmela, Spizzichino, Letizia, D'Adamo, Pio, Monfregola, Jlenia, Maiorino, Antonio, D'Eustacchio, Angela, Ventruto, Valerio, Neri, Giovanni, D'Urso, Michele, Chiurazzi, Pietro, Ursini, Matilde Valeria, Miano, Maria Giuseppina

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A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX Yazar: Poeta, Loredana, Fusco, Francesca, Drongitis, Denise, Shoubridge, Cheryl, Manganelli, Genesia, Filosa, Stefania, Paciolla, Mariateresa, Courtney, Monica, Collombat, Patrick, Lioi, Maria Brigida, Gecz, Jozef, Ursini, Matilde Valeria, Miano, Maria Giuseppina

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Autoantibodies against type I IFNs in patients with life-threatening COVID-19 Yazar: Bastard, Paul, Rosen, Lindsey B., Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N., Delmonte, Ottavia M., Abers, Michael S., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P., Vasse, Marc, Smadja, David M., Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C., Tangye, Stuart G., Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C., Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H., Oler, Andrew J., Gu, Jingwen, Burbelo, Peter D., Cohen, Jeffrey I., Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S., Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S., Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S., Puel, Anne, Zhang, Shen-Ying, Holland, Steven M., Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M., Cobat, Aurélie, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Casanova, Jean-Laurent

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