Works matching IS 00034800 AND DT 2022 AND VI 86 AND IP 2
Results: 7
Frequency of DPYD gene variants and phenotype inference in a Southern Brazilian population.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 102, doi. 10.1111/ahg.12453
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- Article
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 94, doi. 10.1111/ahg.12452
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Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 87, doi. 10.1111/ahg.12451
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- Article
Expanding the clinico‐molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 71, doi. 10.1111/ahg.12449
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Identification of the β thalassemia allele β<sup>–50</sup> and analysis of the hematology data of carriers in a southern Chinese population.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 63, doi. 10.1111/ahg.12446
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 2, p. i, doi. 10.1111/ahg.12431
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- Article
CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.
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- Annals of Human Genetics, 2022, v. 86, n. 2, p. 80, doi. 10.1111/ahg.12450
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- Article