Found: 16
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From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
- Published in:
- Nucleic Acids Research, 2013, v. 41, n. 1, p. e16, doi. 10.1093/nar/gks836
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- Publication type:
- Article
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.
- Published in:
- Nature Medicine, 2014, v. 20, n. 12, p. 1410, doi. 10.1038/nm.3746
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- Publication type:
- Article
The TP53 Pro72Arg SNP in <italic>de novo</italic> acute myeloid leukaemia – results of two cohort studies involving 215 patients and 3759 controls.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
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- Publication type:
- Article
Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.
- Published in:
- Scientific Reports, 2017, p. 46454, doi. 10.1038/srep46454
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- Publication type:
- Article
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01624
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- Publication type:
- Article
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis.
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 705, doi. 10.1007/s00439-018-1915-y
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- Publication type:
- Article
Opportunities and challenges of whole-genome and -exome sequencing.
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- BMC Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12863-017-0479-5
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- Publication type:
- Article
Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammation.
- Published in:
- Science Immunology, 2021, v. 6, n. 65, p. 1, doi. 10.1126/sciimmunol.abf7473
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- Publication type:
- Article
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 23, p. 6614, doi. 10.1093/hmg/ddv367
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- Publication type:
- Article
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 21, p. 6254, doi. 10.1093/hmg/ddv348
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- Publication type:
- Article
CEACAM1 regulates TIM-3-mediated tolerance and exhaustion.
- Published in:
- Nature, 2015, v. 517, n. 7534, p. 386, doi. 10.1038/nature13848
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- Publication type:
- Article
Rare phenotypes in the understanding of autoimmunity.
- Published in:
- Immunology & Cell Biology, 2016, v. 94, n. 10, p. 943, doi. 10.1038/icb.2016.76
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- Publication type:
- Article
Whole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 564, doi. 10.1186/1471-2164-15-564
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- Publication type:
- Article
Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing.
- Published in:
- BMC Genomics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2164-13-417
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- Publication type:
- Article
Identifying Crohn's disease signal from variome analysis.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0670-6
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- Publication type:
- Article