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Pathogenic EFHCI mutations are tolerated in healthy individuals dependent on reported ancestry.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 2, p. 188, doi. 10.1111/epi.12864
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- Article
Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies.
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- Epilepsia (Series 4), 2011, v. 52, n. 1, p. 1, doi. 10.1111/j.1528-1167.2010.02734.x
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- Article
Response to comments on the paper 'Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies'.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 1, p. 193, doi. 10.1111/j.1528-1167.2010.02944.x
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- Publication type:
- Article
Novel variants in ZNF34 and other brain-expressed transcription factors are shared among early-onset MDD relatives.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 3, p. 333, doi. 10.1002/ajmg.b.32408
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- Article
Control of the C. albicans Cell Wall<br /> Damage Response by Transcriptional<br /> Regulator Cas5.
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- PLoS Pathogens, 2006, v. 2, n. 3, p. e21, doi. 10.1371/journal.ppat.0020021
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- Article
P-063: Pathogenic germline variants in hereditary cancer genes in patients with Multiple Myeloma.
- Published in:
- Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S73, doi. 10.1016/S2152-2650(21)02197-2
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- Article
Convergent Evolution of Chromosomal Sex-Determining Regions in the Animal and Fungal Kingdoms.
- Published in:
- PLoS Biology, 2004, v. 2, n. 12, p. 2243, doi. 10.1371/journal.pbio.0020384
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- Article
Convergent Evolution of Chromosomal Sex-Determining Regions in the Animal and Fungal Kingdoms.
- Published in:
- PLoS Biology, 2004, v. 2, n. 11, p. 1, doi. 10.1371/journal.pbio.0020384
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- Publication type:
- Article
FREQMAX provides an alternative approach for determining high‐resolution allele frequency thresholds in carrier screening.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2078, doi. 10.1002/humu.24123
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- Article
Obtaining Accurate p Values from a Dense SNP Linkage Scan.
- Published in:
- Human Heredity, 2012, v. 74, n. 1, p. 12, doi. 10.1159/000342754
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- Article