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1.1 Articolo in rivista: [40094] Home page tipologia

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Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 1.801 a 1.820 di 40.094
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Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 1-gen-2000 Bardoni, B; Giglio, Sabrina Rita; Schenck, A; Rocchi, M; Mandel, J. L.
Endothelial chimerism and vascular sequestration protect pancreatic islet grafts from antibody-mediated rejection 1-gen-2018 Chen, C. -C.; Pouliquen, E.; Broisat, A.; Andreata, F.; Racape, M.; Bruneval, P.; Kessler, L.; Ahmadi, M.; Bacot, S.; Saison-Delaplace, C.; Marcaud, M.; Van Huyen, J. -P. D.; Loupy, A.; Villard, J.; Demuylder-Mischler, S.; Berney, T.; Morelon, E.; Tsai, M. -K.; Kolopp-Sarda, M. -N.; Koenig, A.; Mathias, V.; Ducreux, S.; Ghezzi, C.; Dubois, V.; Nicoletti, A.; Defrance, T.; Thaunat, O.
Diagnostic implications of genetic copy number variation in epilepsy plus 1-gen-2019 Coppola, A1; 2, 3; Cellini, E4; Stamberger, H5; 6, 7; Saarentaus, E8; 9, 10; 11, ; Cetica, V4; Lal, D10; 11, 12; Djémié, T5; 6, ; Bartnik-Glaska, M13; Ceulemans, B14; Cross, Jh15; 16, 17; Deconinck, T5; 6, ; De Masi, S7; Dorn, T18; Guerrini, R; Hoffman-Zacharska, D14; Kooy, F19; Lagae, L20; Lench, N21; Lemke, Jr22; Lucenteforte, E23; 24, ; Madia, F25; Mefford, Hc26; Morrogh, D21; Nuernberg, P27; Palotie, A11; 13, ; Schoonjans, As15; Striano, P28; Szczepanik, E29; Tostevin, A1; 2, ; Vermeesch, Jr30; Van Esch, H30; Van Paesschen, W31; Waters, Jj21; Weckhuysen, S5; 6, 12; Zara, F25; De Jonghe, P5; 6, 12; Sisodiya, Sm1; 2, ; Marini, C; EuroEPINOMICS-RES, Consortium; Epicnv Consortium., Lehesjioki Ae; Craiu, D; Talvik, T; Caglayan, H; Serratosa, J; Sterbova, K; Møller, Rs; Hjalgrim, H; Lerche, H; Weber, Y; Helbig, I; Von Spiczak, S; Barba, C; Bogaerts, A; Boni, A; Galizia, Ec; Chiari, S; Di Gacomo, G; Ferrari, A; Garducci, S; Giglio, S; Holmgren, P; Leu, C; Melani, F; Novara, F; Pantaleo, M; Peeters, E; Pisano, T; Rosati, A; Sander, J; Schoeler, N; Stankiewicz, P; Striano, S; Suls, A; Traverso, M; Vandeweyer, G; Van Dijck, A; Zuffardi, O.
Use of extracorporeal membrane oxygenation in high-risk acute pulmonary embolism: A systematic review and meta-analysis 1-gen-2021 Baldetti, L; Beneduce, A; Cianfanelli, L; Falasconi, G; Pannone, L; Moroni, F; Venuti, A; Sacchi, S; Gramegna, M; Pazzanese, V; Calvo, F; Gallone, G; Pagnesi, M; Cappelletti, Am.
Bone mineral status and metabolism in patients with Williams-Beuren syndrome 1-gen-2016 Stagi, Stefano; Manoni, Maria Cristina; Scalini, Perla; Chiarelli, F; Verrotti, A; Cecchi, C; Lapi, E; Giglio, Sabrina Rita; Romano, S; De Martino, Maurizio
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes 1-gen-2009 I., Carboni; E., Andreucci; M. R., Caruso; R., Ciccone; O., Zuffardi; M., Genuardi; I., Pela; Giglio, Sabrina Rita
Metabolomic does not predict response to cardiac resynchronization therapy in patients with heart failure 1-gen-2014 Padeletti, Luigi; Modesti, Pietro Amedeo; Cartei, Stella; Checchi, Luca; Ricciardi, Giuseppe; Pieragnoli, Paolo; Sacchi, Stefania; Padeletti, Margherita; Alterini, Brunetto; Pantaleo, Pietro; Hu, Xiaoyu; Tenori, Leonardo; Luchinat, Claudio
Un bambino con severo ritardo di crescita e cisti renali = A child with severe growth delay and renal cysts 1-gen-2019 Vergine, Gianluca; Ravaioli, Elisa; Palazzo, Viviana; Gambaro, Giovanni; Giglio, Sabrina
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 1-gen-2007 De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, Sabrina Rita; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O.
Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis 1-gen-2014 Stagi, Stefano; Elisabetta, Lapi; Salvatore, Seminara; Silvia, Guarducci; Marilena, Pantaleo; Giglio, Sabrina Rita; Francesco, Chiarelli; Maurizio De, Martino
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 1-gen-2002 Concolino, D; Iembo, Ma; Rossi, E; Giglio, Sabrina Rita; Coppola, G; Miraglia Del Giudice, E; Strisciuglio, P.
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies 1-gen-2007 Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, Sabrina Rita; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M.
STOP Pain Project—Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways 1-gen-2022 Crescioli, G.; Lombardi, N.; Vagnoli, L.; Bettiol, A.; Giunti, L.; Cetica, V.; Coniglio, M. L.; Provenzano, A.; Giglio, S.; Bonaiuti, R.; Mugelli, A.; Arico, M.; Messeri, A.; Vannacci, A.; Maggini, V.
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family 1-gen-2016 M., Callea; P., Nieminen; C. E., Willoughby; G., Clarich; I., Yavuz; A., Vinciguerra; M., Di Stazio; Giglio, Sabrina Rita; I., Sani; M., Maglione; S., Pensiero; G., Tadini; E., Bellacchio
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 1-gen-1998 A., Egeo; M., Mazzocco; P., Arrigo; J. M., Vidal Taboada; R., Oliva; B., Pirola; Giglio, Sabrina Rita; A., Rasore Quartino; P., Scartezzini
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION 1-gen-2015 Ottaviani, V; Bartocci, A; Pantaleo, M; Giglio, Sabrina Rita; Cecconi, Massimiliano; Verrotti, A; Merla, G; Stangoni, G; Prontera, P.
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay 1-gen-2023 Coci, Emanuele G; Galesi, Ornella; Morgan, Thomas; Giglio, Sabrina; Ostergaard, Elsebet; Elia, Maurizio
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q 1-gen-2000 M. C., Bonaglia; R., Giorda; G., Poggi; M. E., Raggi; E., Rossi; A., Baroncini; Giglio, Sabrina Rita; R., Borgatti; O., Zuffardi
A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: A long-term follow-up and literature review 1-gen-2014 Stagi, Stefano; Elisabetta, Lapi; Marilena, Pantaleo; Giovanna, Traficante; Giglio, Sabrina Rita; Seminara, Salvatore; De Martino, Maurizio
Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549 931 births in Tuscany 1-gen-2015 Seravalli, Viola; Pierini, A; Bianchi, F; Giglio, Sabrina Rita; Vellucci, Fl; Cariati, E.
Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 1.801 a 1.820 di 40.094
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Scopri
Tipologia
  • 1 Contributo su Rivista40094
Autore
  • MONTORSI, FRANCESCO1704
  • FILIPPI, MASSIMO1676
  • METRA, MARCO1347
  • COMI, GIANCARLO1193
  • BRIGANTI, ALBERTO1190
  • BANDELLO, FRANCESCO1059
  • CICERI, FABIO831
  • ALFIERI, OTTAVIO811
  • FALCONI, MASSIMO784
  • DANESE, SILVIO722
Data di pubblicazione
  • In corso di stampa11
  • 2020 - 202712143
  • 2010 - 201915980
  • 2000 - 20097461
  • 1990 - 19993486
  • 1980 - 1989935
  • 1970 - 197977
  • 1959 - 19591
Editore
  • Elsevier Inc.819
  • Elsevier B.V.808
  • John Wiley and Sons Inc548
  • Springer Science and Business Med...548
  • Oxford University Press502
  • Lippincott Williams and Wilkins433
  • Springer371
  • Elsevier Ltd348
  • MDPI348
  • Springer Nature296
Rivista
  • EUROPEAN UROLOGY535
  • BLOOD372
  • PLOS ONE313
  • JOURNAL OF NEUROLOGY289
  • EUROPEAN JOURNAL OF HEART FAILURE281
  • NEUROLOGY270
  • DIGESTIVE AND LIVER DISEASE245
  • EUROPEAN HEART JOURNAL225
  • MULTIPLE SCLEROSIS219
  • SCIENTIFIC REPORTS215
Keyword
  • Humans3553
  • Male2080
  • Female1864
  • Middle Aged1472
  • Aged1290
  • Adult1100
  • COVID-19636
  • Retrospective Studies628
  • Treatment Outcome603
  • Prognosis483
Lingua
  • eng29450
  • ita1971
  • fre65
  • und55
  • spa34
  • ger26
  • por12
  • enm6
  • rus6
  • grc3
Accesso al fulltext
  • no fulltext32010
  • reserved4280
  • open3693
  • partially open104
  • embargoed6
  • mixed1