Webb29 maj 2012 · Small-fibre neuropathy (SFN), a disorder of thinly myelinated Aδ-fibres and … WebbSmall fiber sensory neuropathy is a neuromuscular disorder that affects millions of …
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WebbIdentification of the genetics basis of Mendalian disorders, genotype-phenotype correlation, copy number variation, linkage analysis and, application of Next Generation Sequencing methods. Functional characterization of the underlying mechanisms and the pathogenesis of skeletal dysplasias, idiopathic short stature, ciliopathies and developmental disorders. … Webb7 apr. 2024 · Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone ... rdr2 dlss replacer
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