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Orphanet Journal of Rare Diseases|October 6, 2010
Acro-cardio-facial syndromeMaria Cristina Digilio, Bruno Dallapiccola
Orphanet Journal of Rare Diseases|May 29, 2008
Leopard syndromeAnna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola
American Journal of Medical Genetics. Part A|June 7, 2005
A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variabilityRita Mingarelli, Daniela Zuccarello, Maria Cristina Digilio, et al.
Journal of Cardiovascular Medicine (Hagerstown, Md.)|April 29, 2006
22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular systemAngelo Restivo, Anna Sarkozy, Maria Cristina Digilio, et al.
Clinical Dysmorphology|September 8, 2006
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and sonGiulio Calcagni, Maria Cristina Digilio, Rossella Capolino, et al.
American Journal of Medical Genetics. Part A|September 11, 2010
Shells and heart: are human laterality and chirality of snails controlled by the same maternal genes?Marco Oliverio, Maria Cristina Digilio, Paolo Versacci, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 12, 2003
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxiaMaria Cristina Digilio, Bruno Marino, Aldo Giannotti, et al.
Clinical Dysmorphology|April 18, 2009
Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndromeBruno Dallapiccola, Maria Cristina Digilio, Adriana Zatterale, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
European Journal of Medical Genetics|July 27, 2018
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, et al.
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