Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 11
Results: 7
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective.
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- Human Genetics, 2023, v. 142, n. 11, p. 1543, doi. 10.1007/s00439-023-02602-9
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Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects.
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- Human Genetics, 2023, v. 142, n. 11, p. 1621, doi. 10.1007/s00439-023-02606-5
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How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
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- Human Genetics, 2023, v. 142, n. 11, p. 1611, doi. 10.1007/s00439-023-02601-w
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- Article
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome.
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- Human Genetics, 2023, v. 142, n. 11, p. 1603, doi. 10.1007/s00439-023-02600-x
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- Article
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration.
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- Human Genetics, 2023, v. 142, n. 11, p. 1587, doi. 10.1007/s00439-023-02599-1
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- Article
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
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- Human Genetics, 2023, v. 142, n. 11, p. 1571, doi. 10.1007/s00439-023-02598-2
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- Article
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
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- Human Genetics, 2023, v. 142, n. 11, p. 1561, doi. 10.1007/s00439-023-02592-8
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- Article