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Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: thomas gh. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
Congenital T cell deficiency in a patient with CHARGE syndrome.
Hoover-Fong J, Savage WJ, Lisi E, Winkelstein J, Thomas GH, Hoefsloot LH, Loeb DM. Hoover-Fong J, et al. Among authors: thomas gh. J Pediatr. 2009 Jan;154(1):140-2. doi: 10.1016/j.jpeds.2008.07.049. J Pediatr. 2009. PMID: 19187738 Free PMC article.
Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.
Mardo V, Squibb EE, Braverman N, Hoover-Fong JE, Migeon C, Batista DA, Thomas GH. Mardo V, et al. Among authors: thomas gh. Am J Med Genet A. 2008 Sep 1;146A(17):2293-7. doi: 10.1002/ajmg.a.32316. Am J Med Genet A. 2008. PMID: 18661548 No abstract available.
406 results