Works matching IS 03406717 AND DT 2023 AND VI 142 AND IP 5
Results: 8
The genetics of non-monogenic IBD.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 669, doi. 10.1007/s00439-023-02521-9
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- Article
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
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- Human Genetics, 2023, v. 142, n. 5, p. 697, doi. 10.1007/s00439-023-02523-7
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- Article
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders.
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- Human Genetics, 2023, v. 142, n. 5, p. 595, doi. 10.1007/s00439-023-02566-w
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- Article
Beyond IBD: the genetics of other early-onset diarrhoeal disorders.
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- Human Genetics, 2023, v. 142, n. 5, p. 655, doi. 10.1007/s00439-023-02524-6
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- Article
The genetics of monogenic intestinal epithelial disorders.
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- Human Genetics, 2023, v. 142, n. 5, p. 613, doi. 10.1007/s00439-022-02501-5
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- Article
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 691, doi. 10.1007/s00439-022-02486-1
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- Article
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.
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- Human Genetics, 2023, v. 142, n. 5, p. 599, doi. 10.1007/s00439-022-02464-7
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- Article
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 683, doi. 10.1007/s00439-021-02428-3
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- Article