Rezultati - Mattioli, Francesca
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What is known about deferasirox chelation therapy in pediatric HSCT recipients: two case reports of metabolic acidosis od Fucile, Carmen, Mattioli, Francesca, Marini, Valeria, Gregori, Massimo, Sonzogni, Aurelio, Martelli, Antonietta, Maximova, Natalia
Izdano 2018Text -
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Uncommon serum creatine phosphokinase and lactic dehydrogenase increase during diosmin therapy: two case reports od Milano, Giulia, Leone, Silvia, Fucile, Carmen, Zuccoli, Maria Laura, Stimamiglio, Andrea, Martelli, Antonietta, Mattioli, Francesca
Izdano 2014Text -
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Safety and tolerability of deferasirox in pediatric hematopoietic stem cell transplant recipients: one facility's five years’ experience of chelation treatment od Maximova, Natalia, Gregori, Massimo, Simeone, Roberto, Sonzogni, Aurelio, Boz, Giulia, Fucile, Carmen, Marini, Valeria, Martelli, Antonietta, Mattioli, Francesca
Izdano 2017Text -
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Cannabidiol Determination on Peripheral Capillary Blood Using a Microsampling Method and Ultra-High-Performance Liquid Chromatography Tandem Mass Spectrometry with On-Line Sample P... od Pigliasco, Federica, Barco, Sebastiano, Dubois, Sara, Marchese, Francesca, Striano, Pasquale, Lomonaco, Tommaso, Mattioli, Francesca, Tripodi, Gino, Cangemi, Giuliana
Izdano 2020Text -
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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder od Mattioli, Francesca, Darvish, Hossein, Paracha, Sohail Aziz, Tafakhori, Abbas, Firouzabadi, Saghar Ghasemi, Chapi, Marjan, Baig, Hafiz Muhammad Azhar, Reymond, Alexandre, Antonarakis, Stylianos E., Ansar, Muhammad
Izdano 2021Text -
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Development of an Injectable Slow-Release Metformin Formulation and Evaluation of Its Potential Antitumor Effects od Baldassari, Sara, Solari, Agnese, Zuccari, Guendalina, Drava, Giuliana, Pastorino, Sara, Fucile, Carmen, Marini, Valeria, Daga, Antonio, Pattarozzi, Alessandra, Ratto, Alessandra, Ferrari, Angelo, Mattioli, Francesca, Barbieri, Federica, Caviglioli, Gabriele, Florio, Tullio
Izdano 2018Text -
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Meropenem for treating KPC-producing Klebsiella pneumoniae bloodstream infections: Should we get to the PK/PD root of the paradox? od Del Bono, Valerio, Giacobbe, Daniele Roberto, Marchese, Anna, Parisini, Andrea, Fucile, Carmen, Coppo, Erika, Marini, Valeria, Arena, Antonio, Molin, Alexandre, Martelli, Antonietta, Gratarola, Angelo, Viscoli, Claudio, Pelosi, Paolo, Mattioli, Francesca
Izdano 2016Text -
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In vitro and in vivo antiproliferative activity of metformin on stem-like cells isolated from spontaneous canine mammary carcinomas: translational implications for human tumors od Barbieri, Federica, Thellung, Stefano, Ratto, Alessandra, Carra, Elisa, Marini, Valeria, Fucile, Carmen, Bajetto, Adriana, Pattarozzi, Alessandra, Würth, Roberto, Gatti, Monica, Campanella, Chiara, Vito, Guendalina, Mattioli, Francesca, Pagano, Aldo, Daga, Antonio, Ferrari, Angelo, Florio, Tullio
Izdano 2015Text -
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis od Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie
Izdano 2017Text -
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Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis od Marconi, Caterina, Lemmens, Laure, Masclaux, Frédéric, Mattioli, Francesca, Fluss, Joël, Extermann, Philippe, Mendez, Purificacion, Leuchter, Russia Ha‐Vinh, Stathaki, Elissavet, Laurent, Sacha, Hammar, Eva, Vannier, Anne, Varvagiannis, Konstantinos, Guipponi, Michel, Sloan‐Bena, Frédérique, Blouin, Jean‐Louis, Abramowicz, Marc, Fokstuen, Siv
Izdano 2021Text -
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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis od Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina
Izdano 2018Text -
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder od Mattioli, Francesca, Hayot, Gaelle, Drouot, Nathalie, Isidor, Bertrand, Courraud, Jérémie, Hinckelmann, Maria-Victoria, Mau-Them, Frederic Tran, Sellier, Chantal, Goldman, Alica, Telegrafi, Aida, Boughton, Alicia, Gamble, Candace, Moutton, Sebastien, Quartier, Angélique, Jean, Nolwenn, Van Ness, Paul, Grotto, Sarah, Nambot, Sophie, Douglas, Ganka, Si, Yue Cindy, Chelly, Jamel, Shad, Zohra, Kaplan, Elisabeth, Dineen, Richard, Golzio, Christelle, Charlet-Berguerand, Nicolas, Mandel, Jean-Louis, Piton, Amélie
Izdano 2020Text -
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation od Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie
Izdano 2019Text -
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder od Mirzaa, Ghayda, Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M, Dries, Annika M, Rowe, Leah J, Tsai, Anne CH, Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., Bamshad, Michael J.
Izdano 2019Text -
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects od Manole, Andreea, Efthymiou, Stephanie, O’Connor, Emer, Mendes, Marisa I., Jennings, Matthew, Maroofian, Reza, Davagnanam, Indran, Mankad, Kshitij, Lopez, Maria Rodriguez, Salpietro, Vincenzo, Harripaul, Ricardo, Badalato, Lauren, Walia, Jagdeep, Francklyn, Christopher S., Athanasiou-Fragkouli, Alkyoni, Sullivan, Roisin, Desai, Sonal, Baranano, Kristin, Zafar, Faisal, Rana, Nuzhat, Ilyas, Muhammed, Horga, Alejandro, Kara, Majdi, Mattioli, Francesca, Goldenberg, Alice, Griffin, Helen, Piton, Amelie, Henderson, Lindsay B., Kara, Benyekhlef, Aslanger, Ayca Dilruba, Raaphorst, Joost, Pfundt, Rolph, Portier, Ruben, Shinawi, Marwan, Kirby, Amelia, Christensen, Katherine M., Wang, Lu, Rosti, Rasim O., Paracha, Sohail A., Sarwar, Muhammad T., Jenkins, Dagan, Ahmed, Jawad, Santoni, Federico A., Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Cytrynbaum, Cheryl, Weksberg, Rosanna, Wentzensen, Ingrid M., Guillen Sacoto, Maria J., Si, Yue, Telegrafi, Aida, Andrews, Marisa V., Baldridge, Dustin, Gabriel, Heinz, Mohr, Julia, Oehl-Jaschkowitz, Barbara, Debard, Sylvain, Senger, Bruno, Fischer, Frédéric, van Ravenwaaij, Conny, Fock, Annemarie J.M., Stevens, Servi J.C., Bähler, Jürg, Nasar, Amina, Mantovani, John F., Manzur, Adnan, Sarkozy, Anna, Smith, Desirée E.C., Salomons, Gajja S., Ahmed, Zubair M., Riazuddin, Shaikh, Riazuddin, Saima, Usmani, Muhammad A., Seibt, Annette, Ansar, Muhammad, Antonarakis, Stylianos E., Vincent, John B., Ayub, Muhammad, Grimmel, Mona, Jelsig, Anne Marie, Hjortshøj, Tina Duelund, Karstensen, Helena Gásdal, Hummel, Marybeth, Haack, Tobias B., Jamshidi, Yalda, Distelmaier, Felix, Horvath, Rita, Gleeson, Joseph G., Becker, Hubert, Mandel, Jean-Louis, Koolen, David A., Houlden, Henry
Izdano 2020Text