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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A. Stranneheim H, et al. Among authors: freyer c. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. Among authors: freyer c. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Zaninetti C, Rivera J, Vater L, Ohlenforst S, Leinøe E, Böckelmann D, Freson K, Thiele T, Makhloufi H, Rath M, Eberl W, Wolff M, Freyer C, Wesche J, Zieger B, Felbor U, Heidel FH, Greinacher A. Zaninetti C, et al. Among authors: freyer c. J Thromb Haemost. 2024 Apr;22(4):1179-1186. doi: 10.1016/j.jtha.2023.12.007. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103735
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Zaninetti C, Baschin M, Vater L, Karastaneva A, Holzhauer S, Leinøe E, Ørslev Rasmussen A, Wesche J, Freyer C, Seidel MG, Greinacher A. Zaninetti C, et al. Among authors: freyer c. Br J Haematol. 2024 Feb;204(2):710-714. doi: 10.1111/bjh.19211. Epub 2023 Nov 20. Br J Haematol. 2024. PMID: 37985135 No abstract available.
121 results