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American Journal of Medical Genetics. Part A|May 16, 2003
Subcortical band heterotopia with simplified gyral pattern and syndactylyFederico Sicca, Margherita Silengo, Elena Parrini, et al.European Journal of Pediatrics|April 25, 2003
Hair anomalies as a sign of mitochondrial diseaseMargherita Silengo, Mariella Valenzise, Marco Spada, et al.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.Journal of Pediatric Hematology/Oncology|July 9, 2003
Schinzel-Giedion syndrome with sacrococcygeal teratomaAlessandro Sandri, Andrea Domenco Manazza, Daniele Bertin, et al.Molecular Cytogenetics|June 26, 2014
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletionAnnalisa Vetro, Sara Pagani, Margherita Silengo, et al.European Journal of Medical Genetics|July 8, 2008
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathyMariella Valenzise, Teresa Arrigo, Francesco De Luca, et al.American Journal of Medical Genetics|November 20, 2002
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?Giovanni Battista Ferrero, Mariella Valenzise, Brunella Franco, et al.Italian Journal of Pediatrics|March 23, 2013
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patientCristina Meazza, Ekkehard Lausch, Sara Pagani, et al.American Journal of Medical Genetics. Part A|March 15, 2006
Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocationGiovanni Battista Ferrero, Elga Belligni, Lorena Sorasio, et al.American Journal of Medical Genetics. Part A|February 5, 2003
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variabilityMonica Marini, Roberto Cusano, Pierangela De Biasio, et al.Pageof 3