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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.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, 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.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
Nature Genetics|August 18, 2009
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairViviana Cordeddu, Elia Di Schiavi, Len A Pennacchio, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
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