Search Results - "Sechter, Claire"
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Increasing knowledge in IGF1R defects: lessons from 35 new patients
Published in Journal of medical genetics (01-03-2020)“…The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a…”
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Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants
Published in Clinica chimica acta (01-08-2017)“…Despite ACADS (acyl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C>T and c.625G>A) are considered to be non-pathogenic, encoded proteins…”
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Journal Article