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Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.
Giorda R, Cerritello A, Bonaglia MC, Bova S, Lanzi G, Repetti E, Giglio S, Baschirotto C, Pramparo T, Avolio L, Bragheri R, Maraschio P, Zuffardi O. Giorda R, et al. Among authors: bragheri r. J Med Genet. 2004 Jun;41(6):e71. doi: 10.1136/jmg.2003.012260. J Med Genet. 2004. PMID: 15173237 Free PMC article. No abstract available.
Is bilateral congenital anorchia genetically determined?
Parigi GB, Bardoni B, Avoltini V, Caputo MA, Bragheri R. Parigi GB, et al. Among authors: bragheri r. Eur J Pediatr Surg. 1999 Oct;9(5):312-5. doi: 10.1055/s-2008-1072271. Eur J Pediatr Surg. 1999. PMID: 10584191
35 results