Baldelli, Ilaria; Baccarani, Alessio; Barone, Chiara; Bedeschi, Francesca; Bianca, Sebastiano; Calabrese, Olga; Castori, Marco; Catena, Nunzio; Corain, Massimo; Costanzo, Sara; Barbato, Giacomo De Paoli; Stefano, Santa De; Divizia, Maria Teresa; Feletti, Francesco; Formica, Matteo; Lando, Mario; Lerone, Margherita; Lorenzetti, Fulvio; Martinoli, Carlo; Mellini, Lorenzo; Nava, Maurizio Bruno; Porcellini, Giuseppe; Puliti, Aldamaria; Romanini, Maria Victoria; Rondoni, Franco; Santi, Pierluigi; Sartini, Silvana; Senes, Filippo; Spada, Lucia; Tarani, Luigi; Valle, Maura; Venturino, Cristina; Zaottini, Federico; Torre, Michele; Crimi, Marco

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

意大利波兰综合征患者的诊断和护理经验: 一项试点调查

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-11-2111

OAAI

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2017-04-1116

OAAI

The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect

PATHOBIOLOGY

IF2

2015-03-1620

OAAI

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2014-12-2451

OAAI

Mora, Marina; Angelini, Corrado; Bignami, Fabrizia; Bodin, Anne-Mary; Crimi, Marco; Di Donato, Jeanne-Helene; Felice, Alex; Jaeger, Cecile; Karcagi, Veronika; LeCam, Yann; Lynn, Stephen; Meznaric, Marija; Moggio, Maurizio; Monaco, Lucia; Politano, Luisa; Posada de la Paz, Manuel; Saker, Safaa; Schneiderat, Peter; Ensini, Monica; Garavaglia, Barbara; Gurwitz, David; Johnson, Diana; Muntoni, Francesco; Puymirat, Jack; Reza, Mojgan; Voit, Thomas; Baldo, Chiara; Bricarelli, Franca Dagna; Goldwurm, Stefano; Merla, Giuseppe; Pegoraro, Elena; Renieri, Alessandra; Zatloukal, Kurt; Filocamo, Mirella; Lochmueller, Hanns

Genetic Variation in the Interleukin-28B Gene Is Not Associated With Fibrosis Progression in Patients With Chronic Hepatitis C and Known Date of Infection

HEPATOLOGY

IF15.8

2011-10-01114

OAAI

FIBROSIS PROGRESSION IN PATIENTS WITH CHRONIC HEPATITIS C IS NOT INFLUENCED BY IL28B POLYMORPHISMS

JOURNAL OF HEPATOLOGY

IF33

2011-03-013

PREAI

New mutations in TK2 gene associated with mitochondrial DNA depletion

PEDIATRIC NEUROLOGY