학술논문
'학술논문'
에서 검색결과 677건 | 목록
1~10
Academic Journal
Dei Cas, Michele; Montavoci, Linda; Pasini, Claudia; Caretti, Anna; Penati, Sara; Martinelli, Carla; Gianelli, Umberto; Casati, Sara; Nardecchia, Francesca; Torella, Annalaura; Brunetti-Pierri, Nicola; Trinchera, Marco
In Journal of Lipid Research March 2024 65(3)
Academic Journal
Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A.; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; de Villemeur, Thierry B.; Volker-Touw, Catharina M.L.; Verbeek, Nienke; van der Smagt, Jasper J.; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni B.; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M.A.M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
In The American Journal of Human Genetics 4 May 2023 110(5):790-808
Increased expression or activation of TRPML1 reduces hepatic storage of toxic Z alpha-1 antitrypsin.
Academic Journal
Pastore, Nunzia; Annunziata, Francesco; Colonna, Rita; Maffia, Veronica; Giuliano, Teresa; Custode, Bruno Maria; Lombardi, Bernadette; Polishchuk, Elena; Cacace, Vincenzo; De Stefano, Lucia; Nusco, Edoardo; Sorrentino, Nicolina Cristina; Piccolo, Pasquale; Brunetti-Pierri, Nicola
In Molecular Therapy June 2023
Academic Journal
De Bernardi, Margherita Lucia; Di Stazio, Agnese; Romano, Alfonso; Minardi, Raffaella; Bisulli, Francesca; Licchetta, Laura; Aiello, Salvatore; Carelli, Valerio; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Terrone, Gaetano
In European Journal of Medical Genetics May 2022 65(5)
Academic Journal
Troisi, Serena; Maitz, Silvia; Severino, Mariasavina; Spano, Alice; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torella, Annalaura; Nigro, Vincenzo; Tudp; Bilo, Leonilda; Coppola, Antonietta
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Torella, Annalaura; Cappuccio, Gerarda; Musacchia, Francesco; Mutarelli, Margherita; Carrella, Diego; Vitiello, Giuseppina; Parenti, Giancarlo; Capra, Valeria; Leuzzi, Vincenzo; Selicorni, Angelo; Maitz, Silvia; Brunetti-Pierri, Nicola; Banfi, Sandro; Zollino, Marcella; Montomoli, Martino; Milani, Donatella; Romano, Corrado; Tummolo, Albina; De Brasi, Daniele; Coppola, Antonietta; Santoro, Claudia; Ciaccio, Claudia; Duga, Valentina; Pantaleoni, Chiara; Esposito, Silvia; Moroni, Isabella; Pinelli, Michele; Castello, Raffaele; Nigro, Vincenzo; Chiapparini, Luisa; D'Arrigo, Stefano
In European Journal of Medical Genetics January 2021 64(1)
Academic Journal
Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward
In The Lancet Diabetes & Endocrinology July 2020 8(7):594-605
Academic Journal
Apuzzo, Diletta; Cappuccio, Gerarda; Vaisanen, Taneli; Alagia, Marianna; Pignataro, Piero; Genesio, Rita; Brunetti-Pierri, Nicola
In European Journal of Medical Genetics June 2020 63(6)
Academic Journal
Ferriero, Rosa; Nusco, Edoardo; De Cegli, Rossella; Carissimo, Annamaria; Manco, Giuseppe; Brunetti-Pierri, Nicola
In Journal of Hepatology August 2018 69(2):325-335
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[AR] Brunetti-Pierri, Nicola
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