Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"early childhood onset"”.
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Klinik und Molekulargenetik der hereditären motorischen und sensiblen Neuropathien im Kindesalter
… of responsible mutations of patients with early childhood onset HSMN and draws a better understanding of the structure and function of the proteins, which are liable for the peripheral nervous system. It can be confirmed that new autosomal dominant mutations play a vital role in the …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… generalized muscle weakness of early childhood onset. I performed several conventional genetic tests to detect chromosomal aberrations, gene copy number variations, and candidate gene and mitochondrial gene mutations. After finding no abnormality ,I conducted whole exome …