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1.1 Articolo in rivista: [39433] Home page tipologia

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Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 1.381 a 1.400 di 39.433
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Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation 1-gen-2002 Giglio, Sabrina Rita; Calvari, V; Gregato, G; Gimelli, G; Camanini, S; Giorda, R; Ragusa, A; Guerneri, S; Selicorni, A; Stumm, M; Tonnies, H; Ventura, M; Zollino, M; Neri, G; Barber, J; Wieczorek, D; Rocchi, M; Zuffardi, O.
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities 1-gen-2003 Giglio, S.
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma 1-gen-2000 Bernasconi, P; Orlandi, E; Cavigliano, P; Calatroni, S; Boni, M; Astori, C; Pagnucco, G; Giglio, Sabrina Rita; Caresana, M; Lazzarino, M; Bernasconi, C.
Reciprocal translocations: a trap for cytogenetists? 1-gen-2005 Ciccone, R; Giorda, R; Gregato, G; Guerrini, R; Giglio, Sabrina Rita; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, O; Rossi, E.
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 1-gen-2019 Cellini, E.; Vetro, A.; Conti, V.; Marini, C.; Doccini, V.; Clementella, C.; Parrini, E.; Giglio, S.; Della Monica, M.; Fichera, M.; Musumeci, S. A.; Guerrini, R.
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation 1-gen-2002 Concolino, D; Iembo, Ma; Marotta, R; Rossi, E; Moricca, Mt; Giglio, Sabrina Rita; Strisciuglio, P.
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene 1-gen-2000 Cicirata, F; Parenti, R; Spinella, F; Giglio, Sabrina Rita; Tuorto, F; Zuffardi, O; Gulisano, M.
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD) 1-gen-2002 Gimelli, G; Giglio, Sabrina Rita; Zuffardi, O; Alhonen, L; Suppola, S; Cusano, R; Lo Nigro, C; Gatti, R; Ravazzolo, R; Seri, M.
Thymic function is a major determinant of onset of antibody-mediated rejection in heart transplantation 1-gen-2018 Sannier, A.; Stroumza, N.; Caligiuri, G.; Le Borgne-Moynier, M.; Andreata, F.; Senemaud, J.; Louedec, L.; Even, G.; Gaston, A. T.; Deschildre, C.; Couvelard, A.; Ou, P.; Cheynier, R.; Nataf, P.; Dorent, R.; Nicoletti, A.
Differential diagnosis between Marfan syndrome and Loeys–Dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 1-gen-2021 Nistri, S.; De Cario, R.; Sticchi, E.; Spaziani, G.; Monica, M. D.; Giglio, S.; Favilli, S.; Giusti, B.; Stefano, P.; Pepe, G.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder 1-gen-2020 Squeo, Gm; Augello, B; Massa, V; Milani, D; Colombo, Ea; Mazza, T; Castellana, S; Piccione, M; Maitz, S; Petracca, A; Prontera, P; Accadia, M; Della Monica, M; Di Giacomo, Mc; Melis, D; Selicorni, A; Giglio, S; Fischetto, R; Di Fede, E; Malerba, N; Russo, M; Castori, M; Gervasini, C; Merla, G.
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome 1-gen-2009 L., Giunti; V., Cetica; U., Ricci; Giglio, Sabrina Rita; I., Sardi; M., Paglierani; E., Andreucci; M., Sanzo; M., Forni; Buccoliero, A. M.; L., Genitori; M., Genuardi
Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations 1-gen-2015 Caciotti, A; Tonin, Rodolfo; Rigoldi, M; Ferri, L; Catarzi, S; Cavicchi, C; Procopio, E; Donati, Ma; Ficcadenti, A; Fiumara, A; Barone, R; Garavelli, L; Rocco, Md; Filocamo, M; Antuzzi, D; Scarpa, M; Mooney, Sd; Li, B; Skouma, A; Bianca, S; Concolino, D; Casalone, R; Monti, E; Pantaleo, M; Giglio, Sabrina Rita; Guerrini, Renzo; Parini, R; Morrone, Amelia
Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis 1-gen-2011 Pela, Ivana; Provenzano, Aldesia; Giglio, Sabrina Rita
Jumping translocations in acute lymphoblastic leukemia 1-gen-1995 L., Seghezzi; P., Addis; Giglio, Sabrina Rita; R., Invernizzi; E., Maserati
Multicenter experience with implantable defibrillators subject to recall 1-gen-2011 Perrotta, Laura; Pieragnoli, Paolo; Ricciardi, Giuseppe; Sacchi, Stefania; Mascia, Giuseppe; Padeletti, Margherita; Bongiorni, Mg; Curnis, A; Bellocci, F; Michelucci, Antonio; Porciani, Maria Cristina; Padeletti, Luigi
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism 1-gen-2021 Errichiello, Edoardo; Giorda, Roberto; Gambale, Antonella; Iolascon, Achille; Zuffardi, Orsetta; Giglio, Sabrina
Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature 1-gen-2022 Pisano, S.; Melis, M.; Figorilli, M.; Polizzi, L.; Rocchi, L.; Giglio, S.; Defazio, G.; Muroni, A.
Molecular mechanisms generating and stabilizing terminal 22q13Deletions in 44 subjects with Phelan/McDermid Syndrome 1-gen-2011 Bonaglia, Mc.; Giorda, R; Beri, S; De Agostini, C; Novara, F; Fichera, M; Grillo, L; Galesi, O; Vetro, A; Ciccone, R; Maria Bonati, T; Giglio, S; Guerrini, R; Osimani, S; Marelli, S; Zucca, C; Grasso, R; Borgatti, R; Mani, E; Motta, C; Molteni, M; Romano, C; Greco, D; Reitano, S; Baroncini, A; Lapi, E; Cecconi, A; Arrigo, G; Patricelli, Mg; Pantaleoni, C; D'Arrigo, S; Daria, R; Sciacca, F; Dalla Bernardina, B; Zoccante, L; Darra, F; Termine, C; Maserati, E; Bigoni, S; Priolo, E; Bottani, A; Gimelli, S; Bena, F; Brusco, A; Di Gregorio, E; Bagnasco, I; Giussani, U; Nitsch, L; Politi, P; Martinez-Frias, Ml; Martínez-Fernández, Ml; Martínez Guardia, N; Bremer, A; Anderlid, B-M; Zuffardi, O
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation 1-gen-2020 Brizola, E.; Gnoli, M.; Tremosini, M.; Nucci, P.; Bargiacchi, S.; La Barbera, A.; Giglio, S.; Sangiorgi, L.
Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 1.381 a 1.400 di 39.433
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Scopri
Tipologia
  • 1 Contributo su Rivista39433
Autore
  • MONTORSI, FRANCESCO1649
  • FILIPPI, MASSIMO1635
  • METRA, MARCO1345
  • COMI, GIANCARLO1193
  • BRIGANTI, ALBERTO1140
  • BANDELLO, FRANCESCO1059
  • ALFIERI, OTTAVIO811
  • CICERI, FABIO807
  • FALCONI, MASSIMO771
  • DANESE, SILVIO718
Data di pubblicazione
  • In corso di stampa10
  • 2020 - 202611518
  • 2010 - 201915948
  • 2000 - 20097459
  • 1990 - 19993485
  • 1980 - 1989935
  • 1970 - 197977
  • 1959 - 19591
Editore
  • Elsevier Inc.802
  • Elsevier B.V.774
  • John Wiley and Sons Inc527
  • Springer Science and Business Med...522
  • Oxford University Press484
  • Lippincott Williams and Wilkins419
  • Springer363
  • MDPI347
  • Elsevier Ltd334
  • Springer Nature284
Rivista
  • EUROPEAN UROLOGY529
  • BLOOD372
  • PLOS ONE312
  • JOURNAL OF NEUROLOGY283
  • EUROPEAN JOURNAL OF HEART FAILURE280
  • NEUROLOGY268
  • DIGESTIVE AND LIVER DISEASE245
  • EUROPEAN HEART JOURNAL224
  • MULTIPLE SCLEROSIS216
  • SCIENTIFIC REPORTS212
Keyword
  • Humans3553
  • Male2080
  • Female1864
  • Middle Aged1472
  • Aged1290
  • Adult1100
  • COVID-19629
  • Retrospective Studies628
  • Treatment Outcome603
  • Prognosis482
Lingua
  • eng28842
  • ita1959
  • fre64
  • und55
  • spa34
  • ger25
  • por12
  • enm6
  • rus6
  • grc3
Accesso al fulltext
  • no fulltext33467
  • open3488
  • reserved2369
  • partially open100
  • embargoed8
  • mixed1