Meeting report of the second European biotransformation workshop
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DOI: 10.1080/00498254.2022.2064253
Abstract: Abstract Challenges and opportunities in the field of biotransformation were presented and discussed at the 2nd European Biotransformation workshop which was conducted virtually in collaboration with the DMDG on November 24/25, 2021. Here we summarise… read more here.
Keywords: european biotransformation; biotransformation workshop; report second; biotransformation ... See more keywords
Report of second case and clinical and molecular characterization of Eiken syndrome
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DOI: 10.1111/cge.13413
Abstract: We report a boy with Eiken syndrome caused by a homozygous missense variant in Parathyroid hormone 1 receptor (PTH1R) c.103G > A [p.(Glu35Lys)]. Eiken syndrome is a very rare skeletal dysplasia due to bi‐allelic variants in PTH1R.… read more here.
Keywords: second case; eiken syndrome; case clinical; report ... See more keywords
Intra-fourth Ventricular Schwannoma in Pediatric Age Group: Report of Second Case in the Western Literature with Review of Literature
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DOI: 10.4103/jpn.jpn_106_17
Abstract: Schwannoma originates from the myelin sheath of peripheral nerves. It accounts for about 8% of all intracranial tumors. Commonly, schwannoma is located in the extra-axial locations; intra-axial schwannomas are extremely uncommon. The schwannoma arising from… read more here.
Keywords: literature; second case; schwannoma; intra fourth ... See more keywords