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International Journal of Cancer|November 28, 2012
The involvement of the RET variant G691S in medullary thyroid carcinoma enlightened by a meta-analysis studyFrancesca Lantieri, Francesco Caroli, Isabella Ceccherini, et al.DNA Sequence : the Journal of DNA Sequencing and Mapping|February 21, 2003
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase geneStefano Regis, Fabio Dagnino, Francesco Caroli, et al.The Turkish Journal of Pediatrics|May 23, 2013
Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literaturePınar Gençpınar, Balahan B Makay, Marco Gattorno, et al.Dermatology (Basel, Switzerland)|November 23, 2012
Pyoderma gangrenosum, acne and suppurative hidradenitis syndrome following bowel bypass surgeryAngelo V Marzano, Rim S Ishak, Antonella Colombo, et al.Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|March 16, 2011
The ocular motor features of adult-onset alexander disease: a case and review of the literatureGerald Pfeffer, Mathias Abegg, A Talia Vertinsky, et al.Pediatric Pulmonology|September 12, 2008
A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndromeSara Parodi, Maria Pia Baglietto, Alessio Pini Prato, et al.Journal of Neurology|November 16, 2007
Adult-onset Alexander disease : report on a familyPietro Balbi, Marco Seri, Isabella Ceccherini, et al.Frontiers in Genetics|December 24, 2021
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently <i>De Novo GFAP</i> MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.Frontiers in Genetics|April 7, 2022
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP MutationAlice Grossi, Federico Morelli, Marco Di Duca, et al.Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology|November 9, 2022
Congenital myopathy associated with a novel mutation in <i>MEGF10</i> gene, myofibrillar alteration and progressive courseCarolina Croci, Monica Traverso, Serena Baratto, et al.Pageof 4