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Page 1
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Krone N, et al. Among authors: braddock sr. J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162478 Free PMC article.
Further delineation of METTL23-associated intellectual disability.
Almannai M, Obaid O, Faqeih E, Alasmari A, Samman MM, Pinz H, Braddock SR, Alkuraya FS. Almannai M, et al. Among authors: braddock sr. Am J Med Genet A. 2020 Apr;182(4):785-791. doi: 10.1002/ajmg.a.61503. Epub 2020 Feb 18. Am J Med Genet A. 2020. PMID: 32067349
Solid tumor screening recommendations in trisomy 18.
Farmakis SG, Barnes AM, Carey JC, Braddock SR. Farmakis SG, et al. Among authors: braddock sr. Am J Med Genet A. 2019 Mar;179(3):455-466. doi: 10.1002/ajmg.a.61029. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637956
Weaver syndrome: autosomal dominant inheritance of the disorder.
Proud VK, Braddock SR, Cook L, Weaver DD. Proud VK, et al. Among authors: braddock sr. Am J Med Genet. 1998 Oct 2;79(4):305-10. doi: 10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v. Am J Med Genet. 1998. PMID: 9781912
83 results