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1.1 Articolo in rivista: [16172] Home page tipologia

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Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 2.421 a 2.440 di 16.172
Titolo Data di pubblicazione Autore(i) File
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 1-gen-2018 Vinci, Mirella; Fichera, Marco; Musumeci, Sebastiano Antonino; Cali, Francesco; Vitello, Girolamo Aurelio
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 1-gen-2003 Tighe, Orna; Dunican, Donncha; O'Neill, Charles; Bertorelle, Giorgio; Beattie, Diane; Graham, Colin; Zschocke, Johannes; Cali, Francesco; Romano, Valentino; Hrabincova, Eva; Kozak, Libor; Nechyporenko, Marina; Livshits, Ludmilla; Guldberg, Per; Jurkowska, Monika; Zekanowski, Cezary; Perez, Belen; Desviat, Lourdes Ruiz; Ugarte, Magdalena; Ku?inskas, Vaidutis; Knappskog, Per; Treacy, Eileen; Naughten, Eileen; Tyfield, Linda; Byck, Susan; Scriver, Charles R.; Mayne, Philip D.; Croke, David T.
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 1-gen-2001 Romano, V.; Lio, D.; Cali', Francesco; Scola, L.; Leggio, L.; D»anna, C.; De Leo, G.; Salerno, A.
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 1-gen-2001 Mirisola, Mario G.; Cali, Francesco; Gloria, Angelo; Schinocca, Pietro; D'Amato, Monica; Cassara, Georgia; Leo, Giacomo De; Palillo, Letizia; Meli, Concetta; Romano, Valentino
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 1-gen-1996 Romano, V.; Guldberg, P.; Güttler, F.; Meli, C.; Mollica, F.; Pavone, L.; Giovannini, M.; Riva, E.; Biasucci, G.; Luotti, D.; Palillo, L.; Cali, F.; Ceratto, N.; Anello, G.; Bosco, P.
MtDNA control region and RFLP data for Sicily and France 1-gen-2001 Cali, Francesco; Le Roux, M. G.; D'Anna, R.; Flugy, A.; De Leo, G.; Chiavetta, V.; Ayala, G. F.; Romano, V.
Continental and subcontinental distributions of mtDNA control region types 1-gen-2002 Forster, Peter; Cali, Francesco; Röhl, Arne; Metspalu, Ene; D'Anna, Rosalba; Mirisola, Mario; De Leo, Giacomo; Flugy, Anna; Salerno, Alfredo; Ayala, Giovanni; Kouvatsi, Anastasia; Villems, Richard; Romano, Valentino
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 1-gen-2002 Cali, Francesco; Forster, P.; Kersting, Christian; Mirisola, Mario G.; D'Anna, Rosalba; De Leo, Giacomo; Romano, Valentino
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 1-gen-1999 Corsello, G.; Bosco, P.; Cali, Francesco; Greco, Donatella; Cammarata, M.; Ciaccio, M.; Piccione, M.; Romano, V.
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt 1-gen-1996 Hashem, Nemat; Bosco, Paolo; Chiavetta, Valeria; Cali, Francesco; Ceratto, Nadia; Romano, V.
Two novel PAH gene mutations detected in Italian phenylketonuric patients 1-gen-1997 Argiolas, Alessandra; Bosco, Paolo; Cali', Francesco; Ceratto, Nadia; Anello, Guido; Riva, Enrica; Biasucci, Giacomo; Carducci, Carla; Romano, V.
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 1-gen-2025 Ceraolo, Graziana; Spoto, Giulia; Butera, Ambra; Spanò, Maria; Vinci, Mirella; Vitello, Girolamo Aurelio; Musumeci, Antonino; Cali, Francesco; Nicotera, Antonio Gennaro; Di Rosa, Gabriella
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 1-gen-1997 Calì, Francesco; Dianzani, Irma; Desviat, Lourdes R.; Perez, Belen; Ugarte, Magdalena; Ozguc, Meral; Seyrantepe, Volkan; Shiloh, Yossi; Giannattasio, Sergio; Carducci, Carla; Bosco, Paolo; Leo, Giacomo De; Piazza, Alberto; Romano, V.
GRIN2A: involvement in movement disorders and intellectual disability without seizures 1-gen-2019 Nicotera, Antonio Gennaro; Cali', Francesco; Vinci, Mirella; Musumeci, Sebastiano Antonino
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 1-gen-2024 Norata, Davide; Alonge, Paolo; Grillo, Lucia; Calì, Francesco; Sturnio, Maurizio; Lupica, Antonino; Costa, Vanessa; Brighina, Filippo; Di Stefano, Vincenzo
Autologous platelet gel as adjunctive therapy for severe corneal ulcers: a pilot study 1-gen-2025 Harouch, Merieme; Jihad, Safaa; Allou, Younes; D'Oria, Francesco; Ferrise, Marco; Borroni Marco Zagari, Davide; Mazzotta, Cosimo
Medullary thyroid cancer in MEN2 pediatric/adolescent carriers of RET mutation: genotype/phenotype correlation and outcome in a retrospective series of 23 patients 1-gen-2024 Di Benedetto, G; Barca, I; De Gregorio, L; Scollo, C; Giani', Fiorenza; Martorana, F; Russo, M; Frasca, F; Pellegriti, G; Sapuppo, G
PARP-1 as a novel target in endocrine-resistant breast cancer 1-gen-2025 Zicarelli, A.; Talia, M.; Laine, M.; Lappano, R.; Maggiolini, M.; Greene, G. L.
Characterisation of the rigid diaphragm conditions for cross laminated timber floors 1-gen-2025 D'Arenzo, G.; Rigo, P.; Nicolussi, V.; Pozza, L.; Casagrande, D.
Modification factors for predicting the mechanical properties of light-frame timber shear walls for nonlinear static analyses 1-gen-2025 Schwendner, S.; D'Arenzo, G.; Vogt, T.; Seim, W.
Prodotti della tipologia (ordinati per Data di deposito in Decrescente ordine): 2.421 a 2.440 di 16.172
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Tipologia
  • 1 Contributo su Rivista16168
  • 4 Contributo in Atti di Convegno ...2
  • 2 Contributo in Volume1
Autore
  • BARBANTI, MARCO478
  • PAPPALARDO, FEDERICO356
  • GEBBIA, VITTORIO334
  • DOMINGUEZ RODRIGUEZ, LIGIA JULIANA332
  • TUMINO, AURORA313
  • MANIACI, ANTONINO312
  • GULINO, MARISA283
  • ELIA, MAURIZIO282
  • UMANA, GIUSEPPE EMMANUELE277
  • MAGGI, PAOLO263
Data di pubblicazione
  • In corso di stampa18
  • 2020 - 20267669
  • 2010 - 20195902
  • 2000 - 20091997
  • 1990 - 1999523
  • 1980 - 198961
  • 1979 - 19791
Editore
  • Trans Tech Publications1
Rivista
  • INTERNATIONAL JOURNAL OF MOLECULA...235
  • JOURNAL OF CLINICAL MEDICINE168
  • CANCERS132
  • INTERNATIONAL JOURNAL OF ENVIRONM...119
  • DIAGNOSTICS86
  • LNS. ACTIVITY REPORT85
  • SCIENTIFIC REPORTS79
  • PHD KORE REVIEW78
  • RIVISTA DELLA COOPERAZIONE GIURID...76
  • NUTRIENTS74
Serie
  • ADVANCED MATERIALS RESEARCH1
  • WORKING PAPERS RES1
Keyword
  • COVID-19275
  • Humans267
  • Female142
  • Male132
  • SARS-CoV-2116
  • inflammation108
  • oxidative stress86
  • Italy85
  • Adult73
  • Middle Aged72
Lingua
  • eng11428
  • ita2605
  • fre66
  • spa66
  • lat12
  • ger11
  • por6
  • ara3
  • cat3
  • enm3
Accesso al fulltext
  • no fulltext16171