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2q31.2q32.3 deletion syndrome: report of an adult patient.
Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. Prontera P, et al. Among authors: novelli a. Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688. Am J Med Genet A. 2009. PMID: 19248183
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A, Filippi T, Carey JC. Battaglia A, et al. Among authors: novelli a. Eur J Paediatr Neurol. 2013 Nov;17(6):589-99. doi: 10.1016/j.ejpn.2013.04.010. Epub 2013 May 24. Eur J Paediatr Neurol. 2013. PMID: 23711909
844 results