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Page 1
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A, van Wessel DBE, Gonzales E, Thompson RJ, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Polat E, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Calvo PL, Grabhorn E, Hartleif S, van der Woerd WJ, Kamath BM, Wang JS, Li L, Durmaz Ö, Kerkar N, Jørgensen MH, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Ferreira CT, Guerrero FO, Wang H, Sency V, Kim KM, Chen HL, de Carvalho E, Fabre A, Bernabeu JQ, Zellos A, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Horslen S, Schwarz K, Bezerra JA, Wang K, Hansen BE, Verkade HJ; NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) Consortium. Felzen A, et al. Among authors: jorgensen mh. JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb. JHEP Rep. 2022. PMID: 36687469 Free PMC article.
Prophylactic Dosing of Vitamin K to Prevent Bleeding.
Witt M, Kvist N, Jørgensen MH, Hulscher JB, Verkade HJ; also; Netherlands Study group of Biliary Atresia Registry (NeSBAR). Witt M, et al. Among authors: jorgensen mh. Pediatrics. 2016 May;137(5):e20154222. doi: 10.1542/peds.2015-4222. Pediatrics. 2016. PMID: 27244818
Autophagy-mediated control of ribosome homeostasis in oncogene-induced senescence.
López AR, Jørgensen MH, Havelund JF, Arendrup FS, Kolapalli SP, Nielsen TM, Pais E, Beese CJ, Abdul-Al A, Vind AC, Bartek J, Bekker-Jensen S, Montes M, Galanos P, Faergeman N, Happonen L, Frankel LB. López AR, et al. Among authors: jorgensen mh. Cell Rep. 2023 Nov 28;42(11):113381. doi: 10.1016/j.celrep.2023.113381. Epub 2023 Nov 5. Cell Rep. 2023. PMID: 37930887 Free article.
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K, Rasmussen KK, Schoof EM, Clausen FB, Holze H, Bergholt T, Jørgensen MH, Christensen VB, Almaas R, Jordal PL, Locard-Paulet M, Runager K, Nielsen LK, Schlotmann BC, Weischenfeldt JL, Jensen LJ, Dziegiel MH. Rieneck K, et al. Among authors: jorgensen mh. PLoS One. 2023 Oct 20;18(10):e0286432. doi: 10.1371/journal.pone.0286432. eCollection 2023. PLoS One. 2023. PMID: 37862305 Free PMC article.
Low skeletal muscle mass and liver fibrosis in children with cerebral palsy.
Naume MM, Jørgensen MH, Høi-Hansen CE, Nielsen MR, Born AP, Vissing J, Borgwardt L, Stærk DMR, Ørngreen MC. Naume MM, et al. Among authors: jorgensen mh. Eur J Pediatr. 2023 Nov;182(11):5047-5055. doi: 10.1007/s00431-023-05177-9. Epub 2023 Sep 1. Eur J Pediatr. 2023. PMID: 37656239 Free PMC article.
73 results