subject area of
- Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 Academic Article
- Genetic screening for low-penetrance variants in protein-coding genes Academic Article
- Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants Academic Article
- Hemojuvelin (hjv) mutations in persons of european, african-american and asian ancestry with adult onset haemochromatosis Academic Article
- Iron-overload-related disease in HFE hereditary hemochromatosis Academic Article
- Mir-290-295 deficiency in mice results in partially penetrant embryonic lethality and germ cell defects Academic Article
- Penetrance of hemochromatosis Academic Article
- Screening for hemochromatosis by measuring ferritin levels: A more effective approach Academic Article
- The penetrance of hereditary hemochromatosis Academic Article