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Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W. Reisch N, et al. Among authors: harrison r. J Clin Endocrinol Metab. 2013 Mar;98(3):E528-36. doi: 10.1210/jc.2012-3449. Epub 2013 Jan 30. J Clin Endocrinol Metab. 2013. PMID: 23365120 Free PMC article.
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: harrison r. 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.
Permissive central tolerance plus defective peripheral checkpoints licence pathogenic memory B cells in CASPR2-antibody encephalitis.
Sun B, Fernandes D, Kienzler AK, Paneva S, Harrison R, Ramanathan S, Harrison AL, Makuch M, Fichtner ML, Donat RF, Akdeniz D, Bayuangga H, Im MG, Williams R, Vasconcelos A, Thomsen S, Fower A, Sun R, Fox H, Mgbachi V, Davies A, Tseng M, Handel A, Kelly M, Zhao M, Bancroft J, Bashford-Rogers R, Pluvinage JV, Dandekar R, Alvarenga BD, Dustin L, Rinaldi S, Owens R, Anthony D, Bennett DL, Waters P, Davis SJ, Wilson MR, O'Connor KC, Soltys J, Carvalho AL, Irani SR. Sun B, et al. Among authors: harrison r. bioRxiv [Preprint]. 2025 Jan 14:2025.01.14.631703. doi: 10.1101/2025.01.14.631703. bioRxiv. 2025. PMID: 39868113 Free PMC article. Preprint.
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Copeland H, Low KJ, Wynn SL, Ahmed A, Arthur V, Balasubramanian M, Bennett K, Berg J, Bertoli M, Bryson L, Bucknall C, Campbell J, Chandler K, Chauhan J, Clarkson A, Coles R, Conti H, Costello P, Coupar T, Craig A, Dean J, Dillon A, Dixit A, Drew K, Eason J, Forzano F, Foulds N, Gardham A, Ghali N, Green A, Hanna W, Harrison R, Hegarty M, Higgs J, Holder M, Irving R, Jain V, Johnson K, Jolley R, Jones WD, Jones G, Joss S, Kalinauskiene R, Kanani F, Kavanagh K, Khan M, Khan N, Kivuva E, Lahiri N, Lakhani N, Lampe A, Lynch SA, Mansour S, Marsden A, Massey H, McKee S, Mohammed S, Naik S, Nesarajah M, Newbury-Ecob R, Osborne F, Parker MJ, Patterson J, Pottinger C, Prapa M, Prescott K, Quinn S, Radley JA, Robart S, Ross A, Rosti G, Sansbury FH, Sarkar A, Searle C, Shannon N, Shears D, Smithson S, Stewart H, Suri M, Tadros S, Theobald R, Thomas R, Tsoulaki O, Vasudevan P, Rodriguez MV, Vittery E, Whyte S, Woods E, Wright T, Zocche D, Firth HV, Wright CF; DDD Study28. Copeland H, et al. Among authors: harrison r. Genet Med Open. 2024 Oct 14;2:101864. doi: 10.1016/j.gimo.2024.101864. eCollection 2024. Genet Med Open. 2024. PMID: 39822267 Free PMC article.
Type 1 Diabetes Mellitus and Thromboembolism in Pregnancy.
Thomas J, Brewerton C, Holmgren C, Harrison R. Thomas J, et al. Among authors: harrison r. Am J Perinatol. 2025 Jan 14. doi: 10.1055/a-2515-2602. Online ahead of print. Am J Perinatol. 2025. PMID: 39809448
4,151 results