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A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly–Polymicrogyria–Polydactyly–Hydrocephalus Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1319962
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- Publication type:
- Article