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7  Articles
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Early detection of insulin resistance (IR) or non-alcoholic fatty liver disease (NAFLD) is crucial to preventing future risks of developing chronic diseases. The Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), Liver Fat Score (LFS), and Fatt... see more

 
RAS pathway mutations have been linked to paediatric B-cell Precursor Acute Lymphoblastic Leukaemia (BCP-ALL) prognosis, relapse and chemotherapy resistance. Primary chromosomal and gene fusion abnormalities initiate the development of pre- leukaemic clon... see more

Noonan syndrome is a rare genetic disorder. It has an autosomal dominant and heterogeneous pattern, with gain-of-function mutations in the genes of the RAS-MAPK signaling pathway. Cardiovascular diseases such as hypertrophic cardiomyopathy are associated ... see more


We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary... see more

Background: Leopard syndrome is a rare case, only around 200 cases has been reported worldwide.  Leopard syndrome is abbreviation for multipel Lentigines, Electrocardiographic conduction, Ocular hypertelorism, Pulmonary stenosis, Abnormality of genit... see more

We describe a 5 years old girl who presented to the multidisciplinary skeletal dysplasia clinic following excision of two bony lumps from her fingers. Based on clinical examination, radiolographs and histological results an initial diagnosis of hereditary... see more

1 of 2 pages  |  10  records  |  more records»