Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 1
Results: 13
Integrative analysis of genome‐wide association study and expression quantitative trait loci datasets identified various immune cell‐related pathways for rheumatoid arthritis.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 72, doi. 10.1111/ahg.12351
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- Article
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 102, doi. 10.1111/ahg.12352
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In silico analysis of nonsynonymous single‐nucleotide polymorphisms (nsSNPs) of the SMPX gene.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 54, doi. 10.1111/ahg.12350
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A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 46, doi. 10.1111/ahg.12349
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A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 97, doi. 10.1111/ahg.12348
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Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari‐Turkish patients.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 37, doi. 10.1111/ahg.12347
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Using microarray analysis to identify genes and pathways that regulate fetal hemoglobin levels.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 29, doi. 10.1111/ahg.12346
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Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 11, doi. 10.1111/ahg.12345
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A novel nonsense variant in PLS3 causes X‐linked osteoporosis in a Chinese family.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 92, doi. 10.1111/ahg.12344
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Congenital microcephaly‐linked CDK5RAP2 affects eye development.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 87, doi. 10.1111/ahg.12343
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Genetic model of MS severity predicts future accumulation of disability.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 1, doi. 10.1111/ahg.12342
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- Article
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
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- Annals of Human Genetics, 2020, v. 84, n. 1, p. 80, doi. 10.1111/ahg.12337
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- Article
Issue Information.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 1, p. 1, doi. 10.1111/ahg.12329
- Publication type:
- Article