Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 10
Results: 11
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1183, doi. 10.1007/s00439-019-02057-x
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- Article
Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.
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- 2019
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- Publication type:
- Correction Notice
Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.
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- Human Genetics, 2019, v. 138, n. 10, p. 1171, doi. 10.1007/s00439-019-02050-4
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- Article
Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.
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- Human Genetics, 2019, v. 138, n. 10, p. 1155, doi. 10.1007/s00439-019-02049-x
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- Article
The rare 13q33–q34 microdeletions: eight new patients and review of the literature.
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- Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y
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- Article
Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.
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- Human Genetics, 2019, v. 138, n. 10, p. 1123, doi. 10.1007/s00439-019-02045-1
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- Article
Autosomal recessive diseases among the Israeli Arabs.
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- Human Genetics, 2019, v. 138, n. 10, p. 1117, doi. 10.1007/s00439-019-02043-3
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- Article
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
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- Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4
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- Publication type:
- Article
Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues.
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- Human Genetics, 2019, v. 138, n. 10, p. 1091, doi. 10.1007/s00439-019-02041-5
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- Article
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3.
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- Human Genetics, 2019, v. 138, n. 10, p. 1077, doi. 10.1007/s00439-019-02039-z
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- Publication type:
- Article
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.
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- Human Genetics, 2019, v. 138, n. 10, p. 1071, doi. 10.1007/s00439-019-02037-1
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- Article