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Genetic Testing and Molecular Biomarkers|November 26, 2009
A nationwide genetic testing survey in Italy, year 2007Bruno Dallapiccola, Isabella Torrente, Emanuele Agolini, et al.American Journal of Medical Genetics. Part A|December 14, 2006
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type BMarco Castori, Francesco Brancati, Rita Mingarelli, et al.American Journal of Medical Genetics. Part A|July 17, 2008
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasiaSofia Douzgou, Katarina Lehmann, Rita Mingarelli, et al.European Journal of Human Genetics : EJHG|May 26, 2006
Genetic testing in Italy, year 2004Bruno Dallapiccola, Isabella Torrente, Arnaldo Morena, et al.Human Mutation|February 20, 2004
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotypeAntonio Pizzuti, Elisabetta Flex, Rita Mingarelli, et al.BMC Health Services Research|March 19, 2016
Survey of medical genetic services in Italy: year 2011Daniela Giardino, Rita Mingarelli, Tiziana Lauretti, 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 Medical Genetics. Part A|June 9, 2006
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)Marco Castori, Francesco Brancati, Rosanna Rinaldi, et al.American Journal of Medical Genetics. Part A|January 30, 2007
Duplication 18q21.31-q22.2Caterina Ceccarini, Lorenzo Sinibaldi, Laura Bernardini, et al.American Journal of Medical Genetics. Part A|July 17, 2010
TBX2 gene duplication associated with complex heart defect and skeletal malformationsFrancesca Clementina Radio, Laura Bernardini, Sara Loddo, et al.Pageof 4