2015 (v1)
Publication
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Uploaded on: April 14, 2023
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2022 (v1)Publication
KIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. Currently, eight patients have been reported so far. Here we describe...
Uploaded on: February 14, 2024 -
2024 (v1)Publication
Context: The 2019 AACE guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 μg/L and ≤1 μg/L in the diagnosis of permanent GH deficiency (GHD) during the transition phase. Objective: Aim of the study was to evaluate the accuracy of GST compared to insulin tolerance test (ITT) in the definition of GHD at adult height achievement....
Uploaded on: July 3, 2024