Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 2
Results: 12
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 125, doi. 10.1111/ahg.12364
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Type 2 diabetes–associated polymorphisms correlate with SIRT1 and TGF‐β1 gene expression.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 185, doi. 10.1111/ahg.12363
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Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 177, doi. 10.1111/ahg.12361
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Intrauterine phenotype features of fetuses with Williams–Beuren syndrome and literature review.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 169, doi. 10.1111/ahg.12360
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Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 161, doi. 10.1111/ahg.12359
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5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 151, doi. 10.1111/ahg.12358
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Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 201, doi. 10.1111/ahg.12357
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The role of genetics and epigenetics in the pathogenesis of gestational diabetes mellitus.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 114, doi. 10.1111/ahg.12356
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GJB2‐related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 107, doi. 10.1111/ahg.12354
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Total genotype score and athletic status: An exploratory cross‐sectional study of a Brazilian athlete cohort.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 141, doi. 10.1111/ahg.12353
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 2, p. 1, doi. 10.1111/ahg.12329
- Publication type:
- Article
MTF1 binds to metal‐responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression.
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- Annals of Human Genetics, 2020, v. 84, n. 2, p. 195, doi. 10.1111/ahg.12355
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- Article