222 results for Giugliani,+Roberto

222 results for Giugliani,+Roberto

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    Author / Creator:Germain, Dominique P ; Hughes, Derralynn A ; Nicholls, Kathleen ; Bichet, Daniel G ; Giugliani, Roberto ; Wilcox, William R ; Feliciani, Claudio ; Shankar, Suma P ; Ezgu, Fatih ; Amartino, Hernan ; Bratkovic, Drago ; Feldt-Rasmussen, Ulla ; Nedd, Khan ; Sharaf El Din, Usama ; Lourenco, Charles M ; Banikazemi, Maryam ; Charrow, Joel ; Dasouki, Majed ; Finegold, David ; Giraldo, Pilar ; Goker-Alpan, Ozlem ; Longo, Nicola ; Scott, C. Ronald ; Torra, Roser ; Tuffaha, Ahmad ; Jovanovic, Ana ; Waldek, Stephen ; Packman, Seymour ; Ludington, Elizabeth ; Viereck, Christopher ; Kirk, John ; Yu, Julie ; Benjamin, Elfrida R ; Johnson, Franklin ; Lockhart, David J ; Skuban, Nina ; Castelli, Jeff ; Barth, Jay ; Barlow, Carrolee ; Schiffmann, Raphael
    Publisher:United States: Massachusetts Medical Society
    Journal title:The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555
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    Author / Creator:Giugliani, Roberto
    Publisher:Los Angeles, CA: SAGE Publications
    Journal title:Journal of inborn errors of metabolism and screening, 2018-08, Vol.6, p.232640981879624
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    Author / Creator:Diaz, George A. ; Jones, Simon A. ; Scarpa, Maurizio ; Mengel, Karl Eugen ; Giugliani, Roberto ; Guffon, Nathalie ; Batsu, Isabela ; Fraser, Patricia A. ; Li, Jing ; Zhang, Qi ; Ortemann-Renon, Catherine
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1543-1550
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    Author / Creator:Germain, Dominique P. ; Nicholls, Kathy ; Giugliani, Roberto ; Bichet, Daniel G. ; Hughes, Derralynn A. ; Barisoni, Laura M. ; Colvin, Robert B. ; Jennette, J. Charles ; Skuban, Nina ; Castelli, Jeffrey P. ; Benjamin, Elfrida ; Barth, Jay A. ; Viereck, Christopher
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.1987-1997
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    Author / Creator:Giugliani, Roberto ; Giugliani, Luciana ; de Oliveira Poswar, Fabiano ; Donis, Karina Carvalho ; Corte, Amauri Dalla ; Schmidt, Mathias ; Boado, Ruben J ; Nestrasil, Igor ; Nguyen, Carol ; Chen, Steven ; Pardridge, William M
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.110-110, Article 110
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    Author / Creator:Schrover, Rudolf ; Evans, Kathryn ; Giugliani, Roberto ; Noble, Ian ; Bhattacharya, Kaustuv
    Publisher:England: BioMed Central
    Journal title:Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.78-78, Article 78
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    Author / Creator:Beck, Michael ; Ramaswami, Uma ; Hernberg-Ståhl, Elizabeth ; Hughes, Derralynn A ; Kampmann, Christoph ; Mehta, Atul B ; Nicholls, Kathleen ; Niu, Dau-Ming ; Pintos-Morell, Guillem ; Reisin, Ricardo ; West, Michael L ; Schenk, Jörn ; Anagnostopoulou, Christina ; Botha, Jaco ; Giugliani, Roberto
    Publisher:London: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-238, Article 238
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    Author / Creator:Montaño, Adriana M ; Lock-Hock, Ngu ; Steiner, Robert D ; Graham, Brett H ; Szlago, Marina ; Greenstein, Robert ; Pineda, Mercedes ; Gonzalez-Meneses, Antonio ; Çoker, Mahmut ; Bartholomew, Dennis ; Sands, Mark S ; Wang, Raymond ; Giugliani, Roberto ; Macaya, Alfons ; Pastores, Gregory ; Ketko, Anastasia K ; Ezgü, Fatih ; Tanaka, Akemi ; Arash, Laila ; Beck, Michael ; Falk, Rena E ; Bhattacharya, Kaustuv ; Franco, José ; White, Klane K ; Mitchell, Grant A ; Cimbalistiene, Loreta ; Holtz, Max ; Sly, William S
    Publisher:England: BMJ Publishing Group LTD
    Journal title:Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418
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    Author / Creator:Muenzer, Joseph ; Botha, Jaco ; Harmatz, Paul ; Giugliani, Roberto ; Kampmann, Christoph ; Burton, Barbara K
    Publisher:England: BioMed Central
    Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.456-14, Article 456
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    Author / Creator:Muenzer, Joseph ; Giugliani, Roberto ; Scarpa, Maurizio ; Tylki-Szymańska, Anna ; Jego, Virginie ; Beck, Michael
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.161-161, Article 161
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    Author / Creator:Diaz, George A ; Giugliani, Roberto ; Guffon, Nathalie ; Jones, Simon A ; Mengel, Eugen ; Scarpa, Maurizio ; Witters, Peter ; Yarramaneni, Abhimanyu ; Li, Jing ; Armstrong, Nicole M ; Kim, Yong ; Ortemann-Renon, Catherine ; Kumar, Monica
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.437-437, Article 437
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    Author / Creator:McGovern, Margaret M ; Wasserstein, Melissa P ; Bembi, Bruno ; Giugliani, Roberto ; Mengel, K Eugen ; Vanier, Marie T ; Zhang, Qi ; Peterschmitt, M Judith
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.212-212, Article 212
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    Author / Creator:Geberhiwot, Tarekegn ; Wasserstein, Melissa ; Wanninayake, Subadra ; Bolton, Shaun Christopher ; Dardis, Andrea ; Lehman, Anna ; Lidove, Olivier ; Dawson, Charlotte ; Giugliani, Roberto ; Imrie, Jackie ; Hopkin, Justin ; Green, James ; de Vicente Corbeira, Daniel ; Madathil, Shyam ; Mengel, Eugen ; Ezgü, Fatih ; Pettazzoni, Magali ; Sjouke, Barbara ; Hollak, Carla ; Vanier, Marie T ; McGovern, Margaret ; Schuchman, Edward
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.85-85, Article 85
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    Author / Creator:Giugliani, Roberto ; Harmatz, Paul ; Lin, Shuan-Pei ; Scarpa, Maurizio
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.97-97, Article 97
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    Author / Creator:Borges, Pâmella ; Pasqualim, Gabriela ; Giugliani, Roberto ; Vairo, Filippo ; Matte, Ursula
    Publisher:London: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.1-324, Article 324
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    Author / Creator:Muschol, Nicole ; Giugliani, Roberto ; Jones, Simon A ; Muenzer, Joseph ; Smith, Nicholas J. C ; Whitley, Chester B ; Donnell, Megan ; Drake, Elise ; Elvidge, Kristina ; Melton, Lisa ; O'Neill, Cara
    Publisher:London: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-391, Article 391
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    Author / Creator:Héron, Bénédicte ; Batzios, Spyros ; Mengel, Eugen ; Giugliani, Roberto ; Patterson, Marc ; Gautschi, Matthias ; Cornelisse, Peter ; Trokan, Luba ; Schwierin, Barbara ; Rohrbach, Marianne
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2024-12, Vol.19 (1), p.459-11, Article 459
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    Author / Creator:Schuh, Roselena Silvestri ; Gonzalez, Esteban Alberto ; Tavares, Angela Maria Vicente ; Seolin, Bruna Gazzi ; Elias, Lais de Souza ; Vera, Luisa Natalia Pimentel ; Kubaski, Francyne ; Poletto, Edina ; Giugliani, Roberto ; Teixeira, Helder Ferreira ; Matte, Ursula ; Baldo, Guilherme
    Publisher:London: Nature Publishing Group UK
    Journal title:Gene therapy, 2020-02, Vol.27 (1-2), p.74-84
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    Author / Creator:Kubaski, Francyne ; de Oliveira Poswar, Fabiano ; Michelin-Tirelli, Kristiane ; Burin, Maira Graeff ; Rojas-Málaga, Diana ; Brusius-Facchin, Ana Carolina ; Leistner-Segal, Sandra ; Giugliani, Roberto
    Publisher:Switzerland: MDPI AG
    Journal title:Diagnostics (Basel), 2020-03, Vol.10 (3), p.172
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    Author / Creator:Wasserstein, Melissa P ; Lachmann, Robin ; Hollak, Carla ; Barbato, Antonio ; Gallagher, Renata C ; Giugliani, Roberto ; Guelbert, Norberto Bernardo ; Hennermann, Julia B ; Ikezoe, Takayuki ; Lidove, Olivier ; Mabe, Paulina ; Mengel, Eugen ; Scarpa, Maurizio ; Senates, Ebubekir ; Tchan, Michel ; Villarrubia, Jesus ; Thurberg, Beth L ; Yarramaneni, Abhimanyu ; Armstrong, Nicole M ; Kim, Yong ; Kumar, Monica
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2023-12, Vol.18 (1), p.378-12, Article 378
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