Humans 9 clinical article female human 9 male Article 8 Male 8 genetics 8 Female 7 high throughput sequencing 6 High-Throughput Nucleotide Sequencing 5 adult 5 Pedigree 4 controlled study 4 nucleotide sequence 4 pedigree 4 Adult 3 Base Sequence 3 Mutation 3 Sanger sequencing 3 aged 3 bioinformatics 3 case report 3 down regulation 3 gene 3 gene mutation 3 middle aged 3 mutation 3 prediction 3 transfer RNA 3