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American Journal of Medical Genetics. Part A|March 9, 2006
LEOPARD syndrome: clinical diagnosis in the first year of lifeM Cristina Digilio, Anna Sarkozy, Andrea de Zorzi, et al.
American Journal of Medical Genetics. Part A|November 4, 2004
KBG syndrome in a cohort of Italian patientsFrancesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairsMaria Cristina Digilio, Laura Bernardini, Rita Mingarelli, et al.
Human Mutation|January 29, 2003
NF1 gene analysis based on DHPLCAlessandro De Luca, Anna Buccino, Debora Gianni, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 11, 2012
RDDR: a dysmorphology diagnostic network for newborns in central ItalyMaria Lisa Dentici, Luigi Tarani, Maria Cristina Digilio, et al.
Human Genetics|October 18, 2002
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigreesSabrina Semprini, Francesca Capon, Alessandra Tacconelli, et al.
Human Mutation|July 12, 2002
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patientsPaola Origone, Alessandro De Luca, Carlo Bellini, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
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