MRI

Genetics + genomics > Clinical/medical genetics > Patient related > Patient/family related > Patient management > Diagnosis of patient disease > MRI
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Léri-Weill syndrome (LWS) or dyschondrosteosis represents a short stature syndrome characterised by the e mesomelic shortening of the forearms and lower legs and by bilateral Madelung deformity of the wrists. Recently, mutations in the pseudoautosomal homeobox gene SHOX have been shown to be causat ...
There is increasing evidence that cytogenetically invisible chromosome rearrangements are an important cause of genetic disease. Clues to the chromosomal location of these rearrangements may be provided by a specific clinical diagnosis, which can then be investigated by targeted FISH or molecular ...
Vascular cutaneous anomalies could be related to an underlying systemic disease and/or involve other systems. One of these could be the Central Neural System, leading to a various neurological complications. The purpose of this study is to describe brain anomalies among individuals affected with som ...
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder of impaired breakdown of sulfatides that occur throughout the body, but are found in greatest abundance in nervous tissue, kidneys, and testes. The three clinical subtypes of MLD include late-infantile MLD, comprising 50-60% o ...
Introduction The evaluation of myocardial iron loading in thalassaemia major is essential to ensure that individuals are chelated appropriately. However, the development of a reliable technique has proved problematic. The most widely used techniques for assessing iron loading, namely serum ferritin ...
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