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Page 1
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: hayek j. J Child Neurol. 2008 Jun;23(6):683-9. doi: 10.1177/0883073807309778. Epub 2008 Jan 8. J Child Neurol. 2008. PMID: 18182642
Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
Buoni S, Zannolli R, Macucci F, Molinelli M, Viviano M, Cuccia A, Hayek J, Volterrani L, de Santi MM, Miracco C, Fois A. Buoni S, et al. Among authors: hayek j. Pediatr Dermatol. 2007 May-Jun;24(3):267-71. doi: 10.1111/j.1525-1470.2007.00400.x. Pediatr Dermatol. 2007. PMID: 17542878
New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: the future challenge.
Zannolli R, Buoni S, de Santi M, Miracco C, Vonella G, Tassini M, Vivi A, Viviano M, Rossi T, Orsi A, Scarinci R, D'Ambrosio A, Livi W, Volterrani L, Fois A, Willems P, Hayek J. Zannolli R, et al. Among authors: hayek j. Brain Dev. 2008 Aug;30(7):461-8. doi: 10.1016/j.braindev.2007.12.008. Epub 2008 Jan 28. Brain Dev. 2008. PMID: 18226865
Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni S, Zannolli R, de Santi MM, Macucci F, Hayek J, Orsi A et al. Neurocutaneous syndrome with mental delay, autism, blockage in i …
Being all further test negative, the patient exhibited an ultrastructural defect of the skin, identical to that previously described [Buoni …
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: hayek j. 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
187 results