Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hanne Håberg Mørk"'
Autor:
Robert Lesurf, Miriam Ragle Aure, Hanne Håberg Mørk, Valeria Vitelli, Torill Sauer, Jürgen Geisler, Solveig Hofvind, Elin Borgen, Anne-Lise Børresen-Dale, Olav Engebråten, Øystein Fodstad, Øystein Garred, Gry Aarum Geitvik, Rolf Kåresen, Bjørn Naume, Gunhild Mari Mælandsmo, Hege G. Russnes, Ellen Schlichting, Therese Sørlie, Ole Christian Lingjærde, Vessela Kristensen, Kristine Kleivi Sahlberg, Helle Kristine Skjerven, Britt Fritzman
Publikováno v:
Cell Reports, Vol 16, Iss 4, Pp 1166-1179 (2016)
Breast cancer consists of at least five main molecular “intrinsic” subtypes that are reflected in both pre-invasive and invasive disease. Although previous studies have suggested that many of the molecular features of invasive breast cancer are e
Externí odkaz:
https://doaj.org/article/e1867481a54a4882a2cb85fa9be85ee8
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Autor:
Sacha Ferdinandusse, Roar Fjær, Kim D. Falkenberg, Hanne Håberg Mørk, Alma Sikiric, Ane-Marte Øye, Mari Ann Kulseth, Kaja Kristine Selmer, Silja Svanstrøm Amundsen, Hans R. Waterham, Kathrine Bjørgo
Publikováno v:
Molecular genetics and metabolism, 121(4), 325-328. Academic Press Inc.
Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that abol