Autosomal recessive limb girdle muscular dystrophy (LGMD2) is clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of proximal muscles. Two siblings of a ...

Steroid resistant nephrotic syndrome (SRNS), despite being a rare disease, is the second most common cause of end stage kidney failure in childhood and early adulthood. However the heterogeneity and rarity (<1%) of disease ...

Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder characterized by pigmentation abnormalities, failure of skeleton and cardiovascular system with predisposition of tumorogenesis. Nf1 gene product neurofibromin ...

Classical performance measures of a test, such as sensitivity, specificity, positive predicted value (PPV) and negative predicted value (NPV), are obtained by comparison of the test results with a gold standard test. This ...

Pseudomonas aeruginosa, Staphylococcus aureus, Haemophilus influenzae and Burkholderia cepacia complex are the most frequently isolated microorganisms from respiratory tract samples of the cystic fibrosis patients. ...

MEFV which encodes pyrin, causes familial Mediterranean fever (FMF), the most common auto-inflammatory disease. Pyrin is believed to be a regulator of inflammation, though the nature of this regulatory activity remains to ...