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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
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- Publication type:
- Article
Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.
- Published in:
- Pediatric Transplantation, 2016, v. 20, n. 7, p. 1000, doi. 10.1111/petr.12758
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- Publication type:
- Article
The dietary supplement of Ginkgo biloba: a comprehensive review of its potential interactions based on pre-clinical and clinical evidences.
- Published in:
- Boletín Latinoamericano y del Caribe de Plantas Medicinales y Aromáticas, 2021, v. 20, n. 6, p. 558, doi. 10.37360/blacpma.21.20.6.41
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- Publication type:
- Article
Mutation update for the SATB2 gene.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1013, doi. 10.1002/humu.23771
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- Publication type:
- Article