Found: 25
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Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 775, doi. 10.5858/arpa.2023-0090-CP
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- Article
FGF12 copy number variant associated with epileptic encephalopathy.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
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- Publication type:
- Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
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- Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
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- Publication type:
- Article
A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.
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- Journal of Clinical Medicine, 2022, v. 11, n. 12, p. 3413, doi. 10.3390/jcm11123413
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- Publication type:
- Article
Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.
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- Archives of Pathology & Laboratory Medicine, 2022, v. 146, n. 4, p. 451, doi. 10.5858/arpa.2020-0842-CP
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- Publication type:
- Article
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
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- Article
Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.
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- Translational Psychiatry, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41398-020-01087-8
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- Article
Front Cover, Volume 41, Issue 2.
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- Human Mutation, 2020, v. 41, n. 2, p. i, doi. 10.1002/humu.23982
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- Publication type:
- Article
Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
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- Human Mutation, 2020, v. 41, n. 2, p. 412, doi. 10.1002/humu.23939
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- Publication type:
- Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
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- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Publication type:
- Article
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
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- Publication type:
- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Article
A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0131797
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- Publication type:
- Article
Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing.
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- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113036
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- Publication type:
- Article
In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue.
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- Human Molecular Genetics, 2013, v. 22, n. 17, p. 3534, doi. 10.1093/hmg/ddt208
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- Publication type:
- Article
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.
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- Journal of Neuroinflammation, 2013, v. 10, n. 1, p. 1, doi. 10.1186/1742-2094-10-38
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- Publication type:
- Article
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder.
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- 2013
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- Publication type:
- journal article
Genome-Wide Association of Bipolar Disorder Suggests an Enrichment of Replicable Associations in Regions near Genes.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002134
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- Article
Identification of genetic variants using bar-coded multiplexed sequencing.
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- Nature Methods, 2008, v. 5, n. 10, p. 887, doi. 10.1038/nmeth.1251
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- Publication type:
- Article
Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies.
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- Bioinformatics, 2008, v. 24, n. 17, p. 1896, doi. 10.1093/bioinformatics/btn333
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- Publication type:
- Article
Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays.
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- PLoS Genetics, 2008, v. 4, n. 8, p. 1, doi. 10.1371/journal.pgen.1000167
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- Publication type:
- Article
P1-347: A novel resequencing technique allows quantitation of heteroplasmy in mtDNA sequence variants found in AD patients
- Published in:
- 2006
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- Publication type:
- Abstract
P3-163: Identification of a novel risk gene for progressive supranuclear palsy by a genome-wide scan of 500,288 SNPs
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P1-347: A novel resequencing technique allows quantitation of heteroplasmy in mtDNA sequence variants found in AD patients
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-163: Identification of a novel risk gene for progressive supranuclear palsy by a genome-wide scan of 500,288 SNPs
- Published in:
- 2006
- By:
- Publication type:
- Abstract