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Page 1
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L, Jimenez Heredia R, Hirschmugl T, Dmytrus J, Krolo A, Müller H, Bock C, Zeitlhofer P, Dworzak M, Mann G, Holter W, Haas O, Boztug K. Kager L, et al. Among authors: krolo a. Br J Haematol. 2018 Jul;182(2):251-258. doi: 10.1111/bjh.15389. Epub 2018 May 24. Br J Haematol. 2018. PMID: 29797310 Free PMC article.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. van Rijn JM, et al. Among authors: krolo a. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29. Gastroenterology. 2018. PMID: 29604290 Free PMC article.
Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway.
Willmann KL, Sacco R, Martins R, Garncarz W, Krolo A, Knapp S, Bennett KL, Boztug K. Willmann KL, et al. Among authors: krolo a. J Proteome Res. 2016 Sep 2;15(9):2900-2909. doi: 10.1021/acs.jproteome.5b01004. Epub 2016 Aug 1. J Proteome Res. 2016. PMID: 27416764 Free PMC article.
MHC class II deficiency: Report of a novel mutation and special review.
Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N. Farrokhi S, et al. Among authors: krolo a. Allergol Immunopathol (Madr). 2018 May-Jun;46(3):263-275. doi: 10.1016/j.aller.2017.04.006. Epub 2017 Jul 1. Allergol Immunopathol (Madr). 2018. PMID: 28676232 Review.
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.
Danandeh K, Jabbari P, Rayzan E, Zoghi S, Shahkarami S, Heredia RJ, Krolo A, Shamsian BS, Boztug K, Rezaei N. Danandeh K, et al. Among authors: krolo a. Endocr Metab Immune Disord Drug Targets. 2022;22(10):1040-1046. doi: 10.2174/1871530322666220407091356. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 35392793
26 results