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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.
Image diagnosis in McCune-Albright syndrome.
Defilippi C, Chiappetta D, Marzari D, Mussa A, Lala R. Defilippi C, et al. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:561-70. doi: 10.1515/jpem.2006.19.s2.561. J Pediatr Endocrinol Metab. 2006. PMID: 16789618 Review.
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
418 results