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Genome-wide analysis of genetic pleiotropy and causal genes across three age-related ocular disorders.
- Published in:
- Human Genetics, 2023, v. 142, n. 4, p. 507, doi. 10.1007/s00439-023-02542-4
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- Article
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.
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- Human Genetics, 2023, v. 142, n. 4, p. 523, doi. 10.1007/s00439-023-02538-0
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- Article
Using comprehensive genomic and functional analyses for resolving genotype–phenotype mismatches in children with suspected CMMRD in Lebanon: an IRRDC study.
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- Human Genetics, 2023, v. 142, n. 4, p. 563, doi. 10.1007/s00439-023-02530-8
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- Article
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
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- Human Genetics, 2023, v. 142, n. 4, p. 553, doi. 10.1007/s00439-023-02543-3
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- Article
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
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- Human Genetics, 2023, v. 142, n. 4, p. 495, doi. 10.1007/s00439-023-02539-z
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- Article
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
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- Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2
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- Article
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
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- Human Genetics, 2023, v. 142, n. 4, p. 577, doi. 10.1007/s00439-023-02531-7
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- Article
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
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- Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
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- Article
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
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- Human Genetics, 2023, v. 142, n. 4, p. 483, doi. 10.1007/s00439-023-02522-8
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- Article
Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.
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- Human Genetics, 2023, v. 142, n. 4, p. 531, doi. 10.1007/s00439-022-02515-z
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- Publication type:
- Article