未登录.png)
分享.png)
收藏分享 收藏 First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele
Diana, Anna; Polizzi, Angela Maria; De Luisi, Annunziata; Pantaleo, Maria Giuseppina; Leonetti, Giuseppina; Simonetti, Simonetta; Bukvic, Nenad; Iacoviello, Matteo; Bucci, Roberta; Gentile, Mattia; Resta, Nicoletta 分享 收藏 Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre ExperienceForleo, Cinzia; Carella, Maria Cristina; Basile, Paolo; Carulli, Eugenio; Dadamo, Michele Luca; Amati, Francesca; Loizzi, Francesco; Sorrentino, Sandro; Dentamaro, Ilaria; Dicorato, Marco Maria; Ricci, Stefano; Bagnulo, Rosanna; Iacoviello, Matteo; Santobuono, Vincenzo Ezio; Caiati, Carlo; Pepe, Martino; Desaphy, Jean-Francois; Ciccone, Marco Matteo; Resta, Nicoletta; Guaricci, Andrea Igoren 分享 收藏 Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern ItalyDi Ciaula, Agostino; Iacoviello, Matteo; Bonfrate, Leonilde; Khalil, Mohamad; Shanmugam, Harshitha; Lopalco, Giuseppe; Bagnulo, Rosanna; Garganese, Antonella; Iannone, Florenzo; Resta, Nicoletta; Portincasa, Piero; Stella, Alessandro 分享 收藏 The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowthLuca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta 分享 收藏 Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathiesMussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Vallero, Stefano Gabriele; Bertin, Daniele; Santoro, Federica; Carli, Diana; Ferrero, Giovanni Battista; Resta, Nicoletta 分享 收藏 Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsMussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D.; Resta, Nicoletta 分享 收藏 Evidence of an interaction between FXR1 and GSK3β polymorphisms on levels of Negative Symptoms of Schizophrenia and their response to antipsychoticsRampino, Antonio; Torretta, Silvia; Gelao, Barbara; Veneziani, Federica; Iacoviello, Matteo; Marakhovskaya, Aleksandra; Masellis, Rita; Andriola, Ileana; Sportelli, Leonardo; Pergola, Giulio; Minelli, Alessandra; Magri, Chiara; Gennarelli, Massimo; Vita, Antonio; Beaulieu, Jean Martin; Bertolino, Alessandro; Blasi, Giuseppe 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
