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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Tuz K, et al. Among authors: done s. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360808 Free PMC article.
Fractures in infants and toddlers with rickets.
Chapman T, Sugar N, Done S, Marasigan J, Wambold N, Feldman K. Chapman T, et al. Among authors: done s. Pediatr Radiol. 2010 Jul;40(7):1184-9. doi: 10.1007/s00247-009-1470-8. Epub 2009 Dec 9. Pediatr Radiol. 2010. PMID: 20012034
Bronchopulmonary sequestration: CT assessment.
Ikezoe J, Murayama S, Godwin JD, Done SL, Verschakelen JA. Ikezoe J, et al. Among authors: done sl. Radiology. 1990 Aug;176(2):375-9. doi: 10.1148/radiology.176.2.2367650. Radiology. 1990. PMID: 2367650
Tumorlike conditions of the pleura.
Walker CM, Takasugi JE, Chung JH, Reddy GP, Done SL, Pipavath SN, Schmidt RA, Godwin JD 2nd. Walker CM, et al. Radiographics. 2012 Jul-Aug;32(4):971-85. doi: 10.1148/rg.324115184. Radiographics. 2012. PMID: 22786988
234 results