Mizuguchi T; Collod-Beroud G; Akiyama T; Abifadel M; Harada N; Morisaki T; Allard D; Varret M; Claustres M; Morisaki H; Ihara M; Kinoshita A; Yoshiura K; Junien C ...
Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...
Many couples consider lifestyle, nutrition, and timing when trying to conceive. Nevertheless, an important factor is ...
Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ...
Marfan syndrome (MS) is an autosomal dominant disease characterised ... MS is an inherited disorder of connective tissue with musculoskeletal, cardiac and ocular abnormalities. Mutation of the FBN1 ...
POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.
Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...