Found: 6
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A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101900
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- Article
Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.
- Published in:
- SAGE Open Medicine, 2020, v. 8, p. 1, doi. 10.1177/2050312120922652
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- Publication type:
- Article
Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiency.
- Published in:
- SAGE Open Medicine, 2020, v. 8, p. 1, doi. 10.1177/2050312120922652
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- Publication type:
- Article
A single‐center pilot study in Malaysia on the clinical utility of whole‐exome sequencing for inborn errors of immunity.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 206, n. 2, p. 119, doi. 10.1111/cei.13626
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- Article
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.778133
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- Article
Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing.
- Published in:
- Molecular Medicine Reports, 2022, v. 26, n. 6, p. N.PAG, doi. 10.3892/mmr.2022.12882
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- Article