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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N. Naess K, et al. Among authors: von dobeln u. JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430898 Free PMC article.
First Year of TREC-Based National SCID Screening in Sweden.
Göngrich C, Ekwall O, Sundin M, Brodszki N, Fasth A, Marits P, Dysting S, Jonsson S, Barbaro M, Wedell A, von Döbeln U, Zetterström RH. Göngrich C, et al. Among authors: von dobeln u. Int J Neonatal Screen. 2021 Aug 25;7(3):59. doi: 10.3390/ijns7030059. Int J Neonatal Screen. 2021. PMID: 34449549 Free PMC article.
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: von dobeln u. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.
107 results