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Mostrati risultati da 40 a 59 di 73
Data di pubblicazione Titolo Autore(i) File
1-gen-2014 Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Chiurazzi, Pietro
1-gen-2010 Molecular pathology in forensic medicine--Introduction. Madea, Burkhard; Saukko, Pekka; Oliva, Antonio; Musshoff, D.
1-gen-2001 Mouse models for Friedereich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Puccio, H; Simon, D; Cossée, M; Criqui Filipe, P; Tiziano, Francesco Danilo; Melki, J; Hindelang, C; Matyas, R; Koenig, M.
1-gen-2006 Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations Sampieri, Katia; Hadjistilianou, Theodora; Mari, Francesca; Speciale, Caterina; Mencarelli, Maria Antonietta; Cetta, Francesco; Manoukian, Siranoush; Peissel, Bernard; Giachino, Daniela; Pasini, Barbara; Acquaviva, Antonio; Caporossi, Aldo; Frezzotti, Renato; Renieri, Alessandra; Bruttini, Mirella
1-gen-2012 Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy Sarparanta, J; Jonson, Ph; Golzio, C; Sandell, S; Luque, H; Screen, M; Mcdonald, K; Stajich, Jm; Mahjneh, I; Vihola, A; Raheem, O; Penttilä, S; Lehtinen, S; Huovinen, S; Palmio, J; Tasca, Giorgio; Ricci, Enzo; Hackman, P; Hauser, M; Katsanis, N; Udd, B.
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario
1-gen-2013 Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
1-gen-2013 Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France Lattante, Serena; Le Ber, I; Camuzat, A; Brice, A; Kabashi, E.
1-gen-2013 MUTYH c.933+3A > C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis Pin, E; Pastrello, C; Tricarico, R; Papi, L; Quaia, M; Fornasarig, M; Carnevali, I; Oliani, C; Fornasin, A; Agostini, M; Maestro, R; Barana, D; Aretz, S; Genuardi, Maurizio; Viel, A.
1-gen-2014 MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations Pecci, A; Klersy, C; Gresele, P; Lee, Kj; De Rocco, D; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, Erica; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, A.
1-gen-2016 New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
1-gen-2021 A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families Capoluongo, Ettore Domenico; De Matteis, Elisabetta; Cucinotto, I; Ronzino, G; Santonocito, Concetta; Tornesello, Assunta; De Giorgio, Mr; Lucci Cordisco, Emanuela; Minucci, Angelo; Genuardi, Maurizio
1-gen-2015 NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series. Gurrieri, Fiorella; Cavaliere, Ml; Priolo, M; Wischmeijer, A; Mammì, C; Neri, G; Pisanti, Ma; Rodella, G; Laganà, C.
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.
1-gen-2000 Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Frugier, Tony; Tiziano, Francesco Danilo; Cifuentes Diaz, Carmen; Miniou, Pierre; Roblot, Natacha; Dierich, A; Le Meur, M; Melki, Judith
1-gen-2014 Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism Fornarino, S; Stagnaro, M; Rinelli, M; Tiziano, Francesco Danilo; Mancardi, Mm; Traverso, M; Veneselli, E; De Grandis, E.
1-gen-2010 PCR and sierology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism Satterfield, Bc; Garcia, Ra; Gurrieri, Fiorella; Schwartz, Charles
1-gen-2009 Phenotypic spectrum of STRA6 mutations: from matthew-wood syndrome to non-lethal anophthalmia. Chassaing, N; Golzio, C; Odent, S; Lequeux, L; Vigouroux, A; Martinovic Bouriel, L; Tiziano, Francesco Danilo; Masini, Lucia; Piro, F; Maragliano, G; Delezoide, Al; Attié Bitach, T; Manouvrier Hanu, S; Etchevers, Hc; Calvas, P.
1-gen-2015 Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Del Grande, Alessandra; Marangi, Giuseppe; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Piacentini, Roberto; Bisogni, Giulia; Lattante, Serena; Luigetti, Marco; Rossini, Paolo Maria; Moncada, Alice
1-gen-2007 Refined characterization of the expression and stability of the SMN gene products Vitte, J; Fassier, C; Tiziano, Francesco Danilo; Dalard, C; Soave, S; Roblot, N; Brahe, Cristina Beate; Saugier Veber, P; Bonnefont, Jp; Melki, J.
Mostrati risultati da 40 a 59 di 73
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