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Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates.
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- Human Heredity, 2018, v. 83, n. 2, p. 71, doi. 10.1159/000488876
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B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0505-2
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- Article