Search Results - "Mis, Emily Kathryn"
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Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Published in Frontiers in neurology (25-09-2024)“…Progressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological…”
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Journal Article -
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Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families
Published in Molecular biology reports (01-12-2023)“…Background Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity,…”
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Journal Article -
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Xylosyltransferase 1 is a key regulator of early chondrocyte maturation and mature bone formation
Published 01-01-2014“…The long bones of the vertebrate body are built by the initial formation of a cartilage template that is later replaced by mineralized bone. The proliferation…”
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Dissertation -
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Xylosyltransferase 1 is a key regulator of early chondrocyte maturation and mature bone formation
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Dissertation