human 269 Humans 208 genetics 208 Article 184 mutation 173 Mutation 168 gene mutation 115 female 114 male 113 controlled study 111 adult 101 nonhuman 74 Female 72 Male 66 metabolism 59 major clinical study 51 middle aged 50 clinical article 48 pathology 46 phenotype 43 article 41 gene expression 38 Adult 37 cohort analysis 37 single nucleotide polymorphism 37 Middle Aged 36 aged 35 procedures 35 Animals 34 animal 33