检索结果 - Giuseppina Baldassarre
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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome 由 Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero
出版 2015Artigo -
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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results 由 Giulio Calcagni, Giuseppe Limongelli, A D’Ambrosio, Francesco Gesualdo, M. Cristina Digilio, Anwar Baban, Sonia Albanese, Paolo Versacci, Enrica De Luca, Giovanni Battista Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan Pablo Kaski, Giulia Tuo, Maria Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
出版 2017Artigo -
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Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome 由 Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia
出版 2017Artigo -
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations 由 Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria Lisa Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria Felicia Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Silengo, Giovanni Battista Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia
出版 2011Artigo
相关主题
Biology
Genetics
Gene
Internal medicine
Medicine
Noonan syndrome
Beckwith–Wiedemann syndrome
DNA methylation
Gene expression
Genomic imprinting
Genotype
Mutation
Phenotype
Pregnancy
Assisted reproductive technology
Cardiology
Chromosome
Cluster (spacecraft)
Cohort
Computational biology
Computer science
Confidence interval
Fetus
Genotype-phenotype distinction
Hemihypertrophy
Imprinting (psychology)
Infertility
KRAS
Karyotype
Live birth