Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 7
Results: 9
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 981, doi. 10.1007/s00439-023-02576-8
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- Publication type:
- Article
Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Sex differences of the shared genetic landscapes between type 2 diabetes and peripheral artery disease in East Asians and Europeans.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 965, doi. 10.1007/s00439-023-02573-x
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- Article
Proteomic profiling of retina and retinal pigment epithelium combined embryonic tissue to facilitate ocular disease gene discovery.
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- Human Genetics, 2023, v. 142, n. 7, p. 927, doi. 10.1007/s00439-023-02570-0
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- Publication type:
- Article
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7
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- Publication type:
- Article
Gene-based association study reveals a distinct female genetic signal in primary hypertension.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 863, doi. 10.1007/s00439-023-02567-9
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- Publication type:
- Article
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 879, doi. 10.1007/s00439-023-02563-z
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- Publication type:
- Article
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 849, doi. 10.1007/s00439-023-02555-z
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- Publication type:
- Article
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
- Published in:
- Human Genetics, 2023, v. 142, n. 7, p. 909, doi. 10.1007/s00439-023-02552-2
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- Publication type:
- Article