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English
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For å registrere i Cristin må du være vitenskapelig eller administrativt ansatt.
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2020
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1. |
Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J.; Aukrust, Ingvild; Rundle, Jana K.; Colclough, Kevin; Molnes, Janne; Kaci, Alba; Nawaz, Sameena; Hassanali, Neelam; Lugt, Timme van der; Mahajan, Anubha; Molven, Anders; Ellard, Sian; McCarthy, Mark I.; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Gloyn, Anna L.. Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. American Journal of Human Genetics 2020 ;Volum 107.(4) s. 670-682 HAUKELAND HVL UiB
Untitled
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2. |
Malikova, Jana; Kaci, Alba; Dusatkova, Petra; Aukrust, Ingvild; Torsvik, Janniche; Vesela, Klara; Kankova, Pavla; Njølstad, Pål Rasmus; Pruhova, Stepanka; Bjørkhaug, Lise. Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. Journal of Clinical Endocrinology and Metabolism (JCEM) 2020 ;Volum 105.(4) s. e1377-e1386 UiB HAUKELAND HVL
Untitled
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3. |
Matsha, Tandi E; raghubeer, shanel; tshivhase, abegail; davids, saarah; gloudina, hon; Bjørkhaug, Lise; Erasmus, Rajiv T. Incidence of HNF1A and GCK MODY Variants in a South African Population. The Application of Clinical Genetics 2020 ;Volum 13. s. 209-219 HVL
Untitled
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