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17.5.2019Arfgengir efnaskiptasjúkdómar á Barnaspítala Hringsins 2003-2018Guðrún Svanlaug Andersen 1994-
27.4.2020Biomarker analysis for APRT deficiency diagnosis using UPLC-MS/MSPálmi Þorgeirsson 1992-
25.4.2018Development of UPLC-MS/MS method for therapeutic drug monitoring for patients with APRT deficiencyÞorsteinn Hjörtur Bjarnason 1990-
11.8.2016Does epigenetic regulation mediate response to cold adaptation in cellular systems?Salvör Rafnsdóttir 1993-
29.5.2020Effect of hemochromatosis on thrombin-induced platelet aggregation, platelet activation, and platelet metabolism: Quality of platelet units from hereditary hemochromatosis patients on maintenance phlebotomyShepeta, Zhaneta, 1994-
28.5.2019The effect of iron overload on platelet function over seven-day storage in platelet-rich plasma: Comparison of newly diagnosed hereditary hemochromatosis and healthy control groupsMarta Mikaelsdóttir 1991-
3.6.2013Eyður í röðum TruSeq-raðgreiningar og notkun Sanger-aðferðar til að fylla í þærHelgi Kristjánsson 1990-
16.5.2022Fingraför og erfðasjúkdómar: Greining á fingrafaramynstri Kabuki heilkennis og möguleiki notkunar sem greiningartólViktor Ingi Ágústsson 1997-
30.4.2019Mass Spectrometry Based Diagnostics for APRT Deficiency: A Validation of a UPLC-MS/MS Urinary Assay for Absolute Quantification of 2,8-dihydroxyadenine and AdenineÞórður Hermannsson 1991-
17.5.2019Rare genetic variants affecting platelet count: Results from a genome-wide association studyJóhann Hauksson 1992-
19.2.2016Synthesis of L68Q mutant cystatin C. Aggregation and autophagy in HEK293T cellsEgill Eydal Hákonarson 1984-
9.6.2015Tvístæða litnings nr. 11 frá föður hjá sjúklingi með Beckwith-Wiedemann heilkenni. Fyrsta greining á Íslandi – SjúkratilfelliSigurður Ingvarsson 1956-; Gestur I. Pálsson 1946-; Valdís Finnsdóttir 1960-; Jóhann Heiðar Jóhannsson 1945-
20.5.2019Validation of an Ultraperformance Liquid Chromatography Method for Measuring Phenylalanine and Tyrosine in Dried Blood SpotsTómas Viðar Sverrisson 1996-
27.5.2020Veldur sjaldgæfur íslenskur arfbreytileiki í HMBS geni slitróttri bráðaporfýríu?Kjartan Helgason 1996-