Publications by Mari Eknes Ytre-Arne
7 publications found
Original articles
Newborn Genetic Screening-Still a Role for Sanger Sequencing in the Era of NGS
Int J Neonatal Screen, 9 (4)
DOI 10.3390/ijns9040067, PubMed 38132826
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633
Synthetic Routes to N-9 Alkylated 8-Oxoguanines; Weak Inhibitors of the Human DNA Glycosylase OGG1
Molecules, 20 (9), 15944-65
DOI 10.3390/molecules200915944, PubMed 26364627
New carbocyclic nucleosides: synthesis of carbocyclic pseudoisocytidine and its analogs
Tetrahedron Lett., 55 (27), 3713-3716
DOI 10.1016/j.tetlet.2014.05.030
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368