Works matching IS 00034800 AND DT 2023 AND VI 87 AND IP 4
Results: 7
Identification of influential rare variants in aggregate testing using random forest importance measures.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 184, doi. 10.1111/ahg.12509
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- Article
Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 196, doi. 10.1111/ahg.12507
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- Article
The impact of obesity on lung function measurements and respiratory disease: A Mendelian randomization study.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 174, doi. 10.1111/ahg.12506
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- Article
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 166, doi. 10.1111/ahg.12505
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- Article
A de novo low‐frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 158, doi. 10.1111/ahg.12503
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- Article
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness.
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- Annals of Human Genetics, 2023, v. 87, n. 4, p. 147, doi. 10.1111/ahg.12501
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2023, v. 87, n. 4, p. 1, doi. 10.1111/ahg.12479
- Publication type:
- Article