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Clinical and molecular evaluation of non-dominant hereditary spherocytosis 1-gen-2001 MIRAGLIA DEL GIUDICE, Emanuele; Nobili, Bruno; Francese, M; D'Urso, L; Iolascon, A; Eber, S; Perrotta, Silverio
Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family 1-gen-2001 MIRAGLIA DEL GIUDICE, Emanuele; Santoro, N.; Cirillo, G.; D'Urso, L.; DI TORO, Rosario; Perrone, Laura
Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia 1-gen-2001 Perrotta, Silverio; MIRAGLIA DEL GIUDICE, Emanuele; Iolascon, A; DE VIVO, M; DI PINTO, D; Cutillo, S; Nobili, Bruno
Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis 1-gen-2001 Danise, P; Amendola, G; Nobili, Bruno; Perrotta, Silverio; MIRAGLIA DEL GIUDICE, Emanuele; Matarese, Sm; Iolascon, A; Brugnara, C.
Molecular screening of the proopiomelanocortin (POMC ) gene in Italian obese children: report of three new mutations 1-gen-2001 MIRAGLIA DEL GIUDICE, Emanuele; Cirillo, G; Santoro, N; D'Urso, L; Carbone, Mt; Di, Toro; R, ; Perrone, Laura
A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia 1-gen-2001 MIRAGLIA DEL GIUDICE, Emanuele; Coppola, G; Bellini, Giulia; Cirillo, G; Scuccimarra, G; Pascotto, Antonio
Inadequate leptin level negatively affects body fat loss during a weight reduction programme for childhood obesity 1-gen-2002 MIRAGLIA DEL GIUDICE, Emanuele; Santoro, N; Marotta, A; Nobili, Bruno; Di, Tr; Perrone, Laura
The variant LEU74MET of the ghrelin gene is associated with early obesity onset 1-gen-2002 MIRAGLIA DEL GIUDICE, Emanuele; P., Raimondo; N., Santoro; L., D'Urso; J., Mucerino; G., Cirillo; Perrone, Laura
Metabolic alteration in a group of obese children and adolescents with nonalcoholic fatty liver disease 1-gen-2002 Perrone, Laura; A., Marotta; P., Raimondo; J., Mucerino; M., Carbone; A., Cardelia; MIRAGLIA DEL GIUDICE, Emanuele
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions 1-gen-2002 Concolino, D; Iembo, Ma; Rossi, E; Giglio, S; Coppola, G; MIRAGLIA DEL GIUDICE, Emanuele; Strisciuglio, P.
SEQUENTIAL ANALYSIS OF HEPATITIS B VIRUS CORE PROMOTER AND PRECORE REGIONS IN CANCER SURVIVOR PATIENTS WITH CHRONIC HEPATITIS B BEFORE, DURING AND AFTER INTERFERON TREATMENT 1-gen-2002 Zampino, Rosa; Marrone, Aldo; Cirillo, G; MIRAGLIA DEL GIUDICE, Emanuele; Utili, Riccardo; Karayiannis, P; Liang, Tj; Ruggiero, G.
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels 1-gen-2002 Castaldo, P; MIRAGLIA DEL GIUDICE, Emanuele; Coppola, G; Pascotto, Antonio; Annunziato, L; Taglialatela, M.
Core promoter mutations 3 years after anti-hepatitis B e seroconversion in patients with chronic hepatitis B or hepatitis B and C infection and cancer remission 1-gen-2002 Zampino, Rosa; Marrone, Aldo; Karayiannis, P.; Cirillo, G.; MIRAGLIA DEL GIUDICE, Emanuele; Rania, G.; Utili, Riccardo; Ruggiero, G.
Low frequency of melanocortin-4 receptor (MC4R) mutations in a Mediterranean population with early-onset obesity 1-gen-2002 MIRAGLIA DEL GIUDICE, Emanuele; Cirillo, G; Nigro, Vincenzo; Santoro, N; D'Urso, L; Raimondo, P; Cozzolino, Domenico; Scafato, D; Perrone, Laura
Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis 1-gen-2002 Reliene, R; Mariani, M; Zanella, A; Reinhart, Wh; Ribeiro, Ml; MIRAGLIA DEL GIUDICE, Emanuele; Perrotta, Silverio; Iolascon, A; Eber, S; Lutz, Hu
A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia 1-gen-2003 MIRAGLIA DEL GIUDICE, Emanuele; Coppola, G; Bellini, Giulia; Ledaal, P; Hertz, Jm; Pascotto, Antonio
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes 1-gen-2003 Coppola, G; Castaldo, P; MIRAGLIA DEL GIUDICE, Emanuele; Bellini, Giulia; Galasso, F; Soldovieri, Mv; Anzalone, L; Sferro, C; Annunziato, L; Pascotto, Antonio; Taglialatela, M.
Insulin class III allele and insulin resistance in obese children and adolescents 1-gen-2003 MIRAGLIA DEL GIUDICE, Emanuele; Grandone, Anna; A., Cardelia; A., D'Aniello; Perrone, Laura
Inappropriate leptin secretion in thalassemia: a potential cofactor of pubertal timing derangement 1-gen-2003 Perrone, Laura; Perrotta, Silverio; Raimondo, P; Mucerino, J; DE ROSA, C; Siciliani, Mc; Santoro, N; MIRAGLIA DEL GIUDICE, Emanuele
EXCLUSION DE LINKAGE A 8Q24 DANS UNE FAMILLE AVEC ABSENCE DE L'ENFANCE A DEBUT PRECOCE ET TOLERANCE REDUITE AU VPA 1-gen-2004 Titomanlio, L; Romano, A; MIRAGLIA DEL GIUDICE, Emanuele; Iuliano, R; Bellini, Giulia; Coppola, G; Pascotto, Antonio; DEL GIUDICE, E.
Mostrati risultati da 61 a 80 di 419
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