Found: 14
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Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 4, p. 318, doi. 10.1001/jama.2022.24836
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- Publication type:
- Article
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2019, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13223-019-0346-1
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- Publication type:
- Article
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 200, doi. 10.1002/mgg3.357
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- Publication type:
- Article
New observations on maternal age effect on germline de novo mutations.
- Published in:
- Nature Communications, 2016, v. 7, n. 1, p. 10486, doi. 10.1038/ncomms10486
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- Article
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective Care.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 3, p. 141, doi. 10.1159/000433621
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- Publication type:
- Article
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1111, doi. 10.1002/ajmg.a.36883
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- Publication type:
- Article
Identification of copy number variants in whole-genome data using Reference Coverage Profiles.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00045
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- Publication type:
- Article
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 530, doi. 10.1002/mgg3.107
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- Publication type:
- Article
Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094554
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- Article
Cell type–specific gene expression differences in complex tissues.
- Published in:
- Nature Methods, 2010, v. 7, n. 4, p. 287, doi. 10.1038/nmeth.1439
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- Article
COLdb, a database linking genetic data to molecular function in fibrillar collagens.
- Published in:
- 2009
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- Publication type:
- Other
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 10, p. 1893, doi. 10.1093/hmg/ddp083
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- Publication type:
- Article
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 463, doi. 10.1093/hmg/ddn374
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- Publication type:
- Article
Molecular docking using shape descriptors.
- Published in:
- Journal of Computational Chemistry, 1992, v. 13, n. 3, p. 380, doi. 10.1002/jcc.540130311
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- Publication type:
- Article