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Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 6, p. 516, doi. 10.1159/000531566
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- Article
Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01417-3
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- Publication type:
- Article
A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.
- Published in:
- Molecular Biology Reports, 2023, v. 50, n. 10, p. 8771, doi. 10.1007/s11033-023-08731-8
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- Article