Works matching IS 03406717 AND DT 2024 AND VI 143 AND IP 12
Results: 8
Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1401, doi. 10.1007/s00439-024-02716-8
- By:
- Publication type:
- Article
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1465, doi. 10.1007/s00439-024-02715-9
- By:
- Publication type:
- Article
Interpreting the actionable clinical role of rare variants associated with short QT syndrome.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1499, doi. 10.1007/s00439-024-02713-x
- By:
- Publication type:
- Article
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1509, doi. 10.1007/s00439-024-02712-y
- By:
- Publication type:
- Article
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1459, doi. 10.1007/s00439-024-02711-z
- By:
- Publication type:
- Article
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1433, doi. 10.1007/s00439-024-02709-7
- By:
- Publication type:
- Article
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1445, doi. 10.1007/s00439-024-02708-8
- By:
- Publication type:
- Article
Germline copy number variants and endometrial cancer risk.
- Published in:
- Human Genetics, 2024, v. 143, n. 12, p. 1481, doi. 10.1007/s00439-024-02707-9
- By:
- Publication type:
- Article