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A rare case of angiokeratoma in a 8-month-old boy.
Bassi A, Facchini F, Greco A, Buccoliero AM, Lazzeri S, De Filippi C, Messineo A, de Martino M. Bassi A, et al. Arch Dis Child. 2015 Jul;100(7):630. doi: 10.1136/archdischild-2014-308124. Epub 2015 Feb 12. Arch Dis Child. 2015. PMID: 25678595 No abstract available.
Role of Whole-Body MR with DWIBS in child's Bartonellosis.
Rossi E, Perrone A, Narese D, Cangelosi M, Sollai S, Semeraro A, Mortilla M, Defilippi C. Rossi E, et al. Among authors: defilippi c. Clin Ter. 2016 Jul-Aug;167(4):101-4. doi: 10.7417/CT.2016.1938. Clin Ter. 2016. PMID: 27598022
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, Tiberi L, Vergani D, Kurtas NE, Guarducci S, Bargiacchi S, Forzano G, Artuso R, Palazzo V, Kura A, Giordano F, di Feo D, Mortilla M, De Filippi C, Mattei G, Garavelli L, Giusti B, Genitori L, Zuffardi O, Giglio S. Provenzano A, et al. Hum Genet. 2021 Apr;140(4):625-647. doi: 10.1007/s00439-020-02231-6. Epub 2020 Dec 18. Hum Genet. 2021. PMID: 33337535 Free PMC article.
415 results