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109 results

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Page 1
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Lardelli RM, et al. Among authors: christesen ht. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. Nat Genet. 2017. PMID: 28092684 Free PMC article.
An auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken.
Janssens A, Drachmann D, Barnes-Cullen K, Carrigg A, Christesen HT, Futers B, Lavery YO, Palms T, Petersen JS, Shah P, Thornton P, Wolfsdorf J. Janssens A, et al. Among authors: christesen ht. Res Involv Engagem. 2024 Jul 23;10(1):76. doi: 10.1186/s40900-024-00609-8. Res Involv Engagem. 2024. PMID: 39044294 Free PMC article.
Insulinoma in childhood: a retrospective review of 22 patients from one referral centre.
Melikyan M, Gubaeva D, Shadrina A, Bolmasova A, Kareva M, Tiulpakov A, Efremenkov A, Sokolov Y, Brusgaard K, Christesen HT, Andersen K, Stepanov A, Averyanova J, Makarov S, Gurevich L. Melikyan M, et al. Among authors: christesen ht. Front Endocrinol (Lausanne). 2023 Apr 19;14:1127173. doi: 10.3389/fendo.2023.1127173. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37152923 Free PMC article.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ. Hussain K, et al. Among authors: christesen ht. J Clin Endocrinol Metab. 2005 Jul;90(7):4376-82. doi: 10.1210/jc.2005-0158. Epub 2005 Apr 5. J Clin Endocrinol Metab. 2005. PMID: 15811927
Vitamin D and diabetes: its importance for beta cell and immune function.
Wolden-Kirk H, Overbergh L, Christesen HT, Brusgaard K, Mathieu C. Wolden-Kirk H, et al. Among authors: christesen ht. Mol Cell Endocrinol. 2011 Dec 5;347(1-2):106-20. doi: 10.1016/j.mce.2011.08.016. Epub 2011 Aug 26. Mol Cell Endocrinol. 2011. PMID: 21889571 Review.
[Congenital hyperinsulinism--diagnosis and treatment].
Christesen HT, Bruun MF, Christoffersen SH, Rasmussen L, Petersen H, Detlefsen S, Hovendal CP, Hansen TG, Hansen TP, Brusgaard K. Christesen HT, et al. Ugeskr Laeger. 2011 Nov 21;173(47):3020-5. Ugeskr Laeger. 2011. PMID: 22118585 Review. Danish.
109 results