نتایج جستجو برای: genetic disease
تعداد نتایج: 1987847 فیلتر نتایج به سال:
Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.
Wheat powdery mildew caused by fungal pathogen Blumeria graminis f.sp. tritici is a destructive wheat disease, occurring in regions with cool and humid climates. In order to investigate the changes in pathogenicity of the disease and to identify the effective genetic source of resistance, a total of 29 wheat genotypes with different resistance major genes (Pm) were studied in two hotspots of Go...
according to the well-known classification of dyck, inherited peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (hmsn) or charcot – marie – tooth (cmt) disease, hereditary motor neuropathies (hmn), and hereditary sensory neuropathies (hsn). cmt is a clinically and genetically heterogeneous group of motor and sensory neuropathies, and is the most common inhe...
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