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Immunodeficiency with Multiple Intestinal Atresias (TTC7A) 1-gen-2019 Giliani, Silvia; Lanzi, Gaetana
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome 1-gen-2019 Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Savio, Giulia; Giliani, Silvia Clara
Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations? 1-gen-2019 Moro, R.; Fabiano, A.; Calzavara-Pinton, P.; Cardinale, J.; Palumbo, G.; Giliani, S.; Lanzi, G.; Antonelli, F.; De Simone, M.; Martelli, P.; Fazzi, E.; Pinelli, L.; Gualdi, G.
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene 1-gen-2019 Masneri, S.; Ferraro, R. M.; Lanzi, G.; Piovani, G.; Mori, L.; Barisani, C.; Moratto, D.; Plebani, A.; Badolato, R.; Soresina, A.; Giliani, S.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects 1-gen-2019 Calzoni, Enrica; Platt, Craig D.; Keles, Sevgi; Kuehn, Hye Sun; Beaussant-Cohen, Sarah; Zhang, Yu; Pazmandi, Julia; Lanzi, Gaetana; Pala, Francesca; Tahiat, Azzeddine; Artac, Hasibe; Heredia, Raul Jimenez; Dmytrus, Jasmin; Reisli, Ismail; Uygun, Vedat; Uygun, Dilara; Bingol, Aysen; Basaran, Erdem; Djenouhat, Kamel; Benhalla, Nafissa; Bendahmane, Chafa; Emiroglu, Melike; Kirchhausen, Tomas; Pasham, Mithun; Jones, Jennifer; Wallace, Jacqueline G.; Zheng, Lixin; Boisson, Bertrand; Porta, Fulvio; Rosenzweig, Sergio D.; Su, Helen; Giliani, Silvia; Lenardo, Michael; Geha, Raif S.; Boztug, Kaan; Chou, Janet; Notarangelo, Luigi D.
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 1-gen-2019 Ferraro, R. M.; Lanzi, G.; Masneri, S.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease 1-gen-2019 Lanzi, G.; Masneri, S.; Ferraro, R. M.; Genova, E.; Piovani, G.; Barisani, C.; Pelin, M.; Stocco, Gabriele; Decorti, G.; Bramuzzo, M.; Giliani, S.
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 1-gen-2019 Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, ELTAHIR ABDELRAZIG MOHAMED; Savio, Giulia; Giliani, Silvia Clara
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 1-gen-2019 Ferraro, R. M.; Masneri, S.; Lanzi, G.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING 1-gen-2019 Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, Eltahir; Savio, Giulia; Giliani, Silvia Clara
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene 1-gen-2019 Masneri, S.; Lanzi, G.; Ferraro, R. M.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients 1-gen-2020 Genova, Elena; Cavion, Federica; Lucafò, Marianna; Pelin, Marco; Lanzi, Gaetana; Masneri, Stefania; Ferraro, Rosalba Monica; Fazzi, Elisa Maria; Orcesi, Simona; Decorti, Giuliana; Tommasini, Alberto; Giliani, Silvia; Stocco, Gabriele
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene 1-gen-2020 Lanzi, G.; Ferraro, R. M.; Masneri, S.; Piovani, G.; Barisani, C.; Sobacchi, C.; Villa, A.; Vezzoni, P.; Giliani, S.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene 1-gen-2020 Ali, E.; Ferraro, R. M.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Serpieri, V.; Valente, E. M.; Giordano, L.; Giliani, S. C.
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients 1-gen-2020 Tessarin, Giulio; Rossi, Stefano; Baronio, Manuela; Gazzurelli, Luisa; Colpani, Michael; Benvenuto, Alessio; Zunica, Fiammetta; Cardinale, Fabio; Martire, Baldassarre; Brescia, Letizia; Costagliola, Giorgio; Luti, Laura; Casazza, Gabriella; Menconi, Maria Cristina; Saettini, Francesco; Palumbo, Laura; Girelli, Maria Federica; Badolato, Raffaele; Lanzi, Gaetana; Chiarini, Marco; Moratto, Daniele; Meini, Antonella; Giliani, Silvia; Bondioni, Maria Pia; Plebani, Alessandro; Lougaris, Vassilios
Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene 1-gen-2023 Labella, B.; Lanzi, G.; Cotti Piccinelli, S.; Caria, F.; Damioli, S.; Risi, B.; Bertella, E.; Poli, L.; Padovani, A.; Filosto, M.
Mostrati risultati da 21 a 36 di 36
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