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Your search keyword '"Oskarsson, Gudjon R."' showing total 12 results

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12 results on '"Oskarsson, Gudjon R."'

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1. Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency

2. Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

3. Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

4. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

5. Multiomics study of nonalcoholic fatty liver disease

6. Genetic architecture of band neutrophil fraction in Iceland

7. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

8. Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database

9. A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis

10. Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis

11. A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

12. Actionable Genotypes and Their Association with Life Span in Iceland.

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