Mendelian (or, monogenic) disorders like sickle cell anaemia or cystic fibrosis occur due to mutations in a single gene. While there are currently over 7,000 known Mendelian disorders, many lack ...
Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...
The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Despite rapid ...
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