Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

Autor Skirton, Heather, Lewis, Celine, Kent, Alastair, Coviello, Domenico A
Vydáno 2010

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance

Autor Paffoni, Alessio, Paracchini, Valentina, Ferrari, Stefania, Scarduelli, Claudia, Seia, Manuela, Coviello, Domenico A., Ragni, Guido
Vydáno 2011

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo)

Autor Crimi, Marco, Mineri, Rossana, Godino, Lea, Bertonazzi, Benedetta, Bruzzone, Carla, Pivetta, Barbara, Cordier, Christophe, Coviello, Domenico A., Feroce, Irene
Vydáno v J Community Genet (2020)

European registration process for Clinical Laboratory Geneticists in genetic healthcare

Autor Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Vydáno v Eur J Hum Genet (2017)

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

Autor Divisato, Giuseppina, di Carlo, Federica Scotto, Pazzaglia, Laura, Rizzo, Riccardo, Coviello, Domenico A., Benassi, Maria Serena, Picci, Piero, Esposito, Teresa, Gianfrancesco, Fernando
Vydáno v Oncotarget (2017)

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

Autor Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
Vydáno v Eur J Hum Genet (2019)

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

Autor Paracchini, Valentina, Seia, Manuela, Raimondi, Sara, Costantino, Lucy, Capasso, Patrizia, Porcaro, Luigi, Colombo, Carla, Coviello, Domenico A, Mariani, Tiziana, Manzoni, Emanuela, Sangiovanni, Monica, Corbetta, Carlo
Vydáno 2011

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

Autor Grasso, Marina, Boon, Elles M.J., Filipovic-Sadic, Stela, van Bunderen, Patrick A., Gennaro, Elena, Cao, Ru, Latham, Gary J., Hadd, Andrew G., Coviello, Domenico A.
Vydáno 2014

Banking together. A unified model of informed consent for biobanking

Autor Salvaterra, Elena, Lecchi, Lucilla, Giovanelli, Silvia, Butti, Barbara, Bardella, Maria Teresa, Bertazzi, Pier Alberto, Bosari, Silvano, Coggi, Guido, Coviello, Domenico A, Lalatta, Faustina, Moggio, Maurizio, Nosotti, Mario, Zanella, Alberto, Rebulla, Paolo
Vydáno 2008

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

Autor Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A
Vydáno 2014

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

Autor Cecconi, Massimiliano, Parodi, Maria I., Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B., Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A.
Vydáno v Int J Mol Med (2016)

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

Autor Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo
Vydáno 2014