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A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism
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- Journal:
- Canadian Journal of Neurological Sciences , First View
- Published online by Cambridge University Press:
- 27 March 2024, pp. 1-9
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Pulmonary arterial hypertension associated with impaired lysosomal endothelin-1 degradation
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- Journal:
- Cardiology in the Young / Volume 25 / Issue 4 / April 2015
- Published online by Cambridge University Press:
- 09 June 2014, pp. 773-776
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