Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 4
Results: 8
Genotype concordance and polygenic risk score estimation across consumer genetic testing data.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 4, p. 352, doi. 10.1111/ahg.12389
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- Article
A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 339, doi. 10.1111/ahg.12371
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- Article
Three patients with 46,X,inv(Y)(p11.2q11.2)pat/45,X and their pedigree analysis.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 331, doi. 10.1111/ahg.12381
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- Article
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 324, doi. 10.1111/ahg.12380
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- Article
Homozygous in‐frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 315, doi. 10.1111/ahg.12378
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- Article
Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.
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- Annals of Human Genetics, 2020, v. 84, n. 4, p. 345, doi. 10.1111/ahg.12377
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- Article
Editorial: Topical ethical issues in the publication of human genetics research.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 4, p. 313, doi. 10.1111/ahg.12382
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 4, p. 1, doi. 10.1111/ahg.12332
- Publication type:
- Article