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American Journal of Medical Genetics. Part A|October 22, 2014
Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutationGiuseppina Baldassarre, Alessandro Mussa, Elena Banaudi, et al.
European Journal of Medical Genetics|August 6, 2008
Clinical and molecular characterization of 40 patients with Noonan syndromeGiovanni Battista Ferrero, Giuseppina Baldassarre, Angelo Giovanni Delmonaco, et al.
European Journal of Medical Genetics|July 13, 2007
Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patientsGiovanni Battista Ferrero, Elisa Biamino, Lorena Sorasio, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Data in Brief|March 16, 2018
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study resultsGiulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
International Journal of Cardiology|August 4, 2017
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study resultsGiulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, et al.
Birth Defects Research|June 20, 2020
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET studyGiulio Calcagni, Giulia Gagliostro, Giuseppe Limongelli, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
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