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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|May 21, 2013
Progressive extreme heterotopic calcificationMargherita Silengo, Claudio Defilippi, Elga Belligni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|April 24, 2017
Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung diseaseEleonora Di Zanni, Annalisa Adamo, Elga Belligni, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
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