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Published in 2022 at "Xenobiotica"
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…
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Keywords:
european biotransformation;
biotransformation workshop;
report second;
biotransformation ... See more keywords
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Published in 2018 at "Clinical Genetics"
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.…
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Keywords:
second case;
eiken syndrome;
case clinical;
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Published in 2017 at "Journal of Pediatric Neurosciences"
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…
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Keywords:
literature;
second case;
schwannoma;
intra fourth ... See more keywords