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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
Malignant peripheral nerve sheath tumour with heterologous liposarcomatous differentiation : case report and review of the literature
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Anti-MDA5 positive dermatomyositis complicated with rapidly progressive interstitial lung disease : a case report
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- Conference Paper
- C3
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Retroperitoneal dedifferentiated liposarcoma with heterologous osteosarcomatous differentiation and a prominent aneurysmal bone cyst-like morphology
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Dedifferentiated liposarcoma of the retroperitoneum with heterologous osteosarcomatous differentiation and a striking aneurysmal bone cyst-like morphology