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Mostrati risultati da 20.481 a 20.500 di 32.209
Data di pubblicazione Titolo Autore(i) File
1-gen-2018 The novel HLA-DRB3*02:02:11 allele identified in an Italian individual Battarra, M.; Locatelli, Franco; Galluccio, T.; Guagnano, A.; Andreani, M.
1-gen-2013 A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' Luigetti, Marco; Bolino, Alessandra; Scarlino, Stefania; Sabatelli, Mario
1-gen-2021 A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset De Rose, D. U.; Gallini, Francesca; Battaglia, Domenica Immacolata; Tiberi, Eloisa; Gaudino, Simona; Contaldo, Ilaria; Veredice, Chiara; Romeo, Domenico Marco; Massimi, Luca; Asaro, A.; Cereda, C.; Vento, Giovanni; Mercuri, Eugenio Maria
1-gen-2000 Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions Askanas, Valerie; Engel, W. King; Alvarez, Renate; Mcferrin, Janis; Broccolini, Aldobrando
1-gen-2022 Novel insights in fibrotic pulmonary sarcoidosis Comes, Alessia; Sofia, Carmelo; Richeldi, Luca
1-gen-2022 Novel Insights Into the Interactions Between the Gut Microbiome, Inflammasomes, and Gasdermins During Colorectal Cancer Privitera, Giuseppe; Rana, N.; Scaldaferri, Franco; Armuzzi, Alessandro; Pizarro, T. T.
1-gen-2014 A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease Ciotti, Paolo; Luigetti, Marco; Geroldi, A; Capponi, S; Pezzini, I; Gulli, R; Pazzaglia, Costanza; Padua, Luca; Massa, R; Mandich, P; Bellone, E.
1-gen-2021 A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia Moffa, Simona; Onori, Maria Elisabetta; De Paolis, Elisa; Ricciardi Tenore, Claudio; Perrucci, Alessia; Pontecorvi, Alfredo; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo
1-gen-2020 Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome Sims, Matthew C; Mayer, Louisa; Collins, Janine; Bariana, Tadbir; Megy, Karyn; Lavenu-Bombled, Cecile; Seyres, Denis; Kollipara, Laxmikanth; Burden, Frances; Greene, Daniel; Lee, Dave; Rodriguez-Romera, Antonio; Alessi, Marie-Christine; Astle, William John; Bahou, Wadie; Bury, Loredana; Chalmers, Elizabeth; Da Silva, Rachael; De Candia, Erica; Deevi, Sri V V; Farrow, Samantha; Gomez, Keith; Grassi, Luigi; Greinacher, Andreas; Gresele, Paolo; Hart, Daniel Patrick; Hurtaud, Marie-Françoise; Kelly, Anne; Kerr, Ron; Le Quellec, Sandra; Leblanc, Thierry M; Leinøe, Eva B; Mapeta, Rutendo P; Mckinney, Harriet; Michelson, Alan D; Morais, Sara; Nugent, Diane J; Papadia, Sofia; Park, Soo J; Pasi, John; Podda, Gian Marco; Poon, Man-Chiu; Reed, Rachel; Sekhar, Mallika; Shalev, Hanna; Sivapalaratnam, Suthesh; Steinberg-Shemer, Orna; Stephens, Jonathan C; Tait, Robert C; Turro, Ernest; Wu, John K; Zieger, Barbara Maria Hildegard; Bioresource, Nihr; Kuijpers, Taco W; Whetton, Anthony D; Sickmann, Albert; Freson, Kathleen; Downes, Kate; Erber, Wendy; Frontini, Mattia; Nurden, Paquita; Ouwehand, Willem Hendrik; Favier, Remi; Guerrero, Jose A
1-gen-2021 Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family Brown, K. M.; Xu, M.; Sargen, M.; Jang, H.; Zhang, M.; Zhang, T.; Zhu, B.; Jones, K.; Kim, J.; Mendoza, L.; Hayward, N. K.; Tucker, M. A.; Goldstein, A. M.; Yang, X. R.; Stewart, D. R.; Hicks, B.; Consonni, D.; Pesatori, A. C.; Fargnoli, Maria Concetta; Peris, Ketty; Stratigos, A.; Menin, C.; Ghiorzo, P.; Puig, S.; Nagore, E.; Andresson, T.; Nussinov, R.; Calista, D.; Landi, M. T.
1-gen-2020 A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 Corsello, Andrea; Bruno, Carmine; Rizza, Roberta; Concolino, Paola; Papi, Giampaolo; Pontecorvi, Alfredo; Rindi, Guido; Paragliola, Rosa Maria
1-gen-2019 A novel method for post-mortem interval estimation based on tissue nano-mechanics De Giorgio, Fabio; Nardini, Matteo; Foti, Federica; Minelli, Eleonora; Papi, Massimiliano; D'Aloja, Ernesto; Pascali, Vincenzo Lorenzo; De Spirito, Marco; Ciasca, Gabriele
1-gen-2011 A novel methodology for large-scale phylogeny partition Prosperi, Mcf; Ciccozzi, M; Fanti, Iuri; Saladini, F; Pecorari, Mauro; Borghi, Vando; Di Giambenedetto, Simona; Bruzzone, B; Capetti, A; Vivarelli, A; Rusconi, S; Re, Mc; Gismondo, Mr; Sighinolfi, L; Gray, Rr; Salemi, M; Zazzi, M; De Luca, Andrea
1-gen-2005 A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer Lucci-Cordisco, E; Zollino, Marcella; Baglioni, S; Mancuso, I; Lecce, R; Gurrieri, Fiorella; Crucitti, Antonio; Papi, L; Neri, G; Genuardi, Maurizio
1-gen-2016 A Novel Mini-invasive Approach to the Treatment of Neuropathic Pain: The PENS Study Rossi, M; De Carolis, G; Liberatoscioli, G; Iemma, D; Nosella, P; Nardi, Lf
1-gen-1996 A novel mitochondrial DNA point mutation in the tRNAIIe gene is associated with progressive external ophtalmoplegia Silvestri, Gabriella; Servidei, Serenella; Rana, M.; Ricci, Enzo; Spinazzola, A.; Paris, E.; Tonali, P.
1-gen-2021 A Novel Monocyte Subset as a Unique Signature of Atherosclerotic Plaque Rupture Vinci, Ramona; Pedicino, Daniela; Bonanni, Alice; D'Aiello, A.; Severino, Anna; Pisano, Eugenia; Ponzo, Myriana; Canonico, Francesco; Ciampi, Pellegrino; Russo, Giovanni; Di Sario, Marianna; Montone, Rocco Antonio; Trani, Carlo; Conte, Caterina; Grimaldi, Maria Chiara; Cribari, Francesco; Massetti, Massimo; Crea, Filippo; Liuzzo, Giovanna
1-gen-2020 A novel multi-marker discovery approach identifies new serum biomarkers for Parkinson’s disease in older people: an EXosomes in PArkiNson Disease (EXPAND) ancillary study Calvani, R.; Picca, A.; Landi, G.; Marini, F.; Biancolillo, A.; Coelho-Junior, H. J.; Gervasoni, J.; Persichilli, S.; Primiano, A.; Arcidiacono, A.; Urbani, A.; Bossola, M.; Bentivoglio, A. R.; Cesari, M.; Bernabei, R.; Monaco, M. R. L.; Marzetti, E.
1-gen-2012 A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure Nobile, Stefano; K Semple, Robert; P Carnielli, Virgilio
1-gen-2006 A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy Cardaioli, E.; Gallus, G. N.; Da Pozzo, P.; Rufa, A.; Franceschini, R.; Motolese, E.; Caporossi, Aldo; Dotti, M. T.; Federico, A.
Mostrati risultati da 20.481 a 20.500 di 32.209
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