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103 results

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Page 1
Global developmental delay, osteopenia and ectodermal defect: a new syndrome.
Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C. Zannolli R, et al. Among authors: zappella m. Brain Dev. 2006 Apr;28(3):155-61. doi: 10.1016/j.braindev.2005.06.011. Epub 2005 Dec 20. Brain Dev. 2006. PMID: 16368207
Polydactyly with ectodermal defect, osteopenia, and mental delay.
Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J. Zannolli R, et al. Among authors: zappella m. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642
Myoclonic encephalopathy in the CDKL5 gene mutation.
Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J. Buoni S, et al. Among authors: zappella m. Clin Neurophysiol. 2006 Jan;117(1):223-7. doi: 10.1016/j.clinph.2005.09.008. Epub 2005 Dec 2. Clin Neurophysiol. 2006. PMID: 16326141
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.
Zannolli R, Pierluigi M, Pucci L, Lagrasta N, Gasparre O, Matera MR, Di Bartolo RM, Mazzei MA, Sacco P, Miracco C, de Santi MM, Aitiani P, Cavani S, Pellegrini L, Fimiani M, Alessandrini C, Galluzzi P, Livi W, Gonnelli S, Terrosi-Vagnoli P, Zappella M, Morgese G. Zannolli R, et al. Among authors: zappella m. Am J Med Genet A. 2003 Jan 15;116A(2):192-9. doi: 10.1002/ajmg.a.10069. Am J Med Genet A. 2003. PMID: 12494443
Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.
Zannolli R, Micheli V, Mazzei MA, Sacco P, Piomboni P, Bruni E, Miracco C, de Santi MM, Terrosi Vagnoli P, Volterrani L, Pellegrini L, Livi W, Lucani B, Gonnelli S, Burlina AB, Jacomelli G, Macucci F, Pucci L, Fimiani M, Swift JA, Zappella M, Morgese G. Zannolli R, et al. Among authors: zappella m. J Med Genet. 2003 Nov;40(11):e121. doi: 10.1136/jmg.40.11.e121. J Med Genet. 2003. PMID: 14627688 Free PMC article. No abstract available.
Rett syndrome and plasma leptin levels.
Blardi P, de Lalla A, D'Ambrogio T, Zappella M, Cevenini G, Ceccatelli L, Auteri A, Hayek J. Blardi P, et al. Among authors: zappella m. J Pediatr. 2007 Jan;150(1):37-9. doi: 10.1016/j.jpeds.2006.10.061. J Pediatr. 2007. PMID: 17188610
103 results