Sfoglia per Rivista GENE
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta
2014-01-01 Elisa, Rubinato; Morgan, Anna; Angela, D'Eustacchio; Vanna, Pecile; Giulia, Gortani; Gasparini, Paolo; Flavio, Faletra
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss
2013-01-01 Flavio, Faletra; Girotto, Giorgia; D'Adamo, ADAMO PIO; Vozzi, Diego; Morgan, Anna; Gasparini, Paolo
A novel procedure for quantitative polymerase chain reaction by coamplification of competitive templates.
1992-01-01 S., Diviacco; P., Norio; L., Zentilin; S., Menzo; M., Clementi; G., Biamonti; S., Riva; A., Falaschi; Giacca, Mauro
Are key cytokines genetic and serum levels variations related to rheumatoid arthritis clinical severity?
2020-01-01 de Lima, C. A. D.; Rushansky, E.; Adelino, J. E.; de Oliveira Souza, A. P.; d'Emery Alves Santos, P.; de Araujo Mariano, M. H. Q.; Crovella, S.; de Azevedo Silva, J.; Sandrin-Garcia, P.
CCR5 genotype and pre-treatment CD4+ T-cell count influence immunological recovery of HIV-positive patients during antiretroviral therapy
2020-01-01 Carvalho-Silva, Wlisses Henrique Veloso; Andrade-Santos, José Leandro; Dos Santos Guedes, Maria Carolina; Crovella, Sergio; Guimarães, Rafael Lima
Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur.
2001-01-01 M., Ventura; M., Boniotto; M. F., Cardone; L., Fulizio; N., Archidiacono; M., Rocchi; Crovella, Sergio
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes
2002-01-01 D'Apolito, M; Guarnieri, V; Boncristiano, M; Zelante, L; Savoia, Anna
Cloning, chromosome mapping and functional characterization of a human homologue of murine Gtse-1 (B99) gene
2000-01-01 Monte, M.; Collavin, Licio; Lazarevic, D.; Utrera, R.; Dragani, T. A.; Schneider, C.
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations
2013-01-01 Faletra, F; Snider, K; Shyng, Sl; Bruno, I; Athanasakis, Emmanouil; Gasparini, Paolo; Dionisi Vici, C; Ventura, Alessandro; Zhou, Q; Stanley, Ca; Burlina, A.
Comment to Santos et. al., "Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype"
2015-01-01 Santos, Ruda de Luna Almeida; Crovella, Sergio; Celsi, Fulvio
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
2013-01-01 Faletra, F; Athanasakis, Emmanouil; Morgan, Anna; Biarnés, X; Fornasier, F; Parini, R; Furlan, F; Boiani, A; Maiorana, A; Dionisi Vici, C; Giordano, L; Burlina, A; Ventura, Alessandro; Gasparini, Paolo
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12
2012-01-01 Rocca, Maria Santa; Fabretto, Antonella; Faletra, Flavio; Carlet, Ombretta; Skabar, Aldo; Gasparini, Paolo; Pecile, Vanna
Engineering mammalian cell factories with SINEUP noncoding RNAs to improve translation of secreted proteins
2015-01-01 Patrucco, Laura; Chiesa, Andrea; Soluri, Maria Felicia; Fasolo, Francesca; Takahashi, Hazuki; Carninci, Piero; Zucchelli, Silvia; Santoro, Claudio; Gustincich, Stefano; Sblattero, Daniele; Cotella, Diego
Extending filamentous phage host range by the grafting of a heterologous receptor binding domain
1997-01-01 Marzari, Roberto; Sblattero, Daniele; Righi, M; Bradbury, A.
The eyestalk transcriptome of red swamp crayfish Procambarus clarkii
2015-01-01 Manfrin, Chiara; Tom, Moshe; DE MORO, Gianluca; Gerdol, Marco; Giulianini, PIERO GIULIO; Pallavicini, Alberto
Genetic profile of patients with early onset inflammatory bowel disease
2018-01-01 Girardelli, Martina; Basaldella, Federica; Paolera, Sara Della; Vuch, Josef; Tommasini, Alberto; Martelossi, Stefano; Crovella, Sergio; Bianco, Anna Monica
Gonad inhibiting hormone (GIH) of the Norway lobster (Nephrops norvegicus): cDNA cloning, expression, recombinant protein production, and immunolocalization
2002-01-01 Edomi, Paolo; Azzoni, E.; Mettulio, R.; Pandolfelli, N.; Ferrero, E. A.; Giulianini, PIERO GIULIO
Gonad-inhibiting hormone of the Norway lobster (Nephrops norvegicus): cDNA cloning, expression, recombinant protein production, and immunolocalization
2002-01-01 Edomi, Paolo; Azzoni, E.; Mettulio, R.; Ferrero, Enrico; Giulianini, PIERO GIULIO
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients
2014-01-01 Vozzi, Diego; Morgan, Anna; Vuckovic, Dragana; A., D'Eustacchio; K., Abdulhadi; E., Rubinato; R., Badii; Gasparini, Paolo; Girotto, Giorgia
Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata
2004-01-01 Ferrante, Paola; Messali, Silvia; Ballabio, Andrea; Meroni, Germana
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