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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: hulscher jbf. 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.
High prevalence of non-accidental trauma among deceased children presenting at Level I trauma centers in the Netherlands.
Loos MHJ, Bakx R, Duijst WLJM, Aarts F, de Blaauw I, Bloemers FW, Ten Bosch JA, Evers M, Greeven APA, Hondius MJ, van Hooren RLJH, Huisman E, Hulscher JBF, Keyzer-Dekker CMG, Krug E, Menke J, Naujocks T, Reijnders UJL, de Ridder VA, Spanjersberg WR, Teeuw AH, Theeuwes HP, Vervoort-Steenbakkers W, de Vries S, de Wit R, van Rijn RR; AsAnTe study group. Loos MHJ, et al. Among authors: hulscher jbf. Forensic Sci Med Pathol. 2021 Dec;17(4):621-633. doi: 10.1007/s12024-021-00416-7. Epub 2021 Nov 13. Forensic Sci Med Pathol. 2021. PMID: 34773580 Free PMC article.
Increased incidence of necrotizing enterocolitis in the Netherlands after implementation of the new Dutch guideline for active treatment in extremely preterm infants: Results from three academic referral centers.
Heida FH, Stolwijk L, Loos MH, van den Ende SJ, Onland W, van den Dungen FA, Kooi EM, Bos AF, Hulscher JB, Bakx R. Heida FH, et al. J Pediatr Surg. 2017 Feb;52(2):273-276. doi: 10.1016/j.jpedsurg.2016.11.024. Epub 2016 Nov 14. J Pediatr Surg. 2017. PMID: 27923478
155 results