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Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
Zannolli R, Buoni S, Macucci F, Miracco C, de Santi MM, Piomboni P, Bruni E, Malandrini A, Galluzzi P, Hadjistilianou T, Medaglini S, Mazzei MA, Sacco P, Terrosi-Vagnoli P, Volterrani L, Molinelli M, Burlina AB, Swift JA, Fimiani M. Zannolli R, et al. Among authors: medaglini s. Am J Med Genet A. 2004 Jun 1;127A(2):212-6. doi: 10.1002/ajmg.a.20692. Am J Med Genet A. 2004. PMID: 15108215
Homocystinuria with transverse sinus thrombosis.
Buoni S, Molinelli M, Mariottini A, Rango C, Medaglini S, Pieri S, Strambi M, Fois A. Buoni S, et al. Among authors: medaglini s. J Child Neurol. 2001 Sep;16(9):688-90. doi: 10.1177/088307380101600913. J Child Neurol. 2001. PMID: 11575612
Measuring evoked responses in multiple sclerosis.
Comi G, Leocani L, Medaglini S, Locatelli T, Martinelli V, Santuccio G, Rossi P. Comi G, et al. Among authors: medaglini s. Mult Scler. 1999 Aug;5(4):263-7. doi: 10.1177/135245859900500412. Mult Scler. 1999. PMID: 10467386 Review.
35 results