Works matching IS 00034800 AND DT 2018 AND VI 82 AND IP 3
Results: 8
A novel mutation in the <italic>HPGD</italic> gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 171, doi. 10.1111/ahg.12239
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- Publication type:
- Article
The association of RAR‐related orphan receptor A (<italic>RORA</italic>) gene polymorphisms with the risk of asthma.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 158, doi. 10.1111/ahg.12238
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- Publication type:
- Article
<italic>p.X654R IDUA</italic> variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS‐7 cells.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 150, doi. 10.1111/ahg.12236
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- Publication type:
- Article
The <italic>RSPO3</italic> gene as genetic markers for bone mass assessed by quantitative ultrasound in a population of young adults.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 143, doi. 10.1111/ahg.12235
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- Publication type:
- Article
Expression of miRNA‐146a, miRNA‐155, IL‐2, and TNF‐α in inflammatory response to <italic>Helicobacter pylori</italic> infection associated with cancer progression.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 135, doi. 10.1111/ahg.12234
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- Publication type:
- Article
A novel homozygous variant in <italic>BMPR1B</italic> underlies acromesomelic dysplasia Hunter–Thompson type.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 129, doi. 10.1111/ahg.12233
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- Publication type:
- Article
A new association between <italic>CDK5RAP2</italic> microcephaly and congenital cataracts.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 165, doi. 10.1111/ahg.12232
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- Publication type:
- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 3, p. 1, doi. 10.1111/ahg.12216
- Publication type:
- Article