Blar i Fakultet for medisin og helsevitenskap (MH) på tidsskrift "Human Genetics"
Viser treff 1-2 av 2
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Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels
(Journal article; Peer reviewed, 2011) -
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant
(Peer reviewed; Journal article, 2021)ALKBH8 is a methyltransferase that modifies tRNAs by methylating the anticodon wobble uridine residue. The syndrome of ALKBH8-related intellectual developmental disability (MRT71) has thus far been reported solely in the ...