Found: 14
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Sex-Dependent Changes in miRNA Expression in the Bed Nucleus of the Stria Terminalis Following Stress.
- Published in:
- Frontiers in Molecular Neuroscience, 2019, p. 1, doi. 10.3389/fnmol.2019.00236
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- Article
SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2013, v. 162B, n. 8, p. 832, doi. 10.1002/ajmg.b.32187
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- Article
COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61495-0
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- Article
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.
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- Human Genetics, 2024, v. 143, n. 7, p. 921, doi. 10.1007/s00439-024-02693-y
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- Article
New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.
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- Journal of Neuroscience, 2021, v. 41, n. 20, p. 4378, doi. 10.1523/JNEUROSCI.2537-20.2021
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- Article
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
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- Clinical Chemistry, 2018, v. 64, n. 4, p. 705, doi. 10.1373/clinchem.2017.280685
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- Article
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
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- Human Mutation, 2022, v. 43, n. 12, p. 1837, doi. 10.1002/humu.24443
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- Article
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
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- Human Mutation, 2021, v. 42, n. 4, p. 373, doi. 10.1002/humu.24167
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- Article
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
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- Human Mutation, 2016, v. 37, n. 1, p. 119, doi. 10.1002/humu.22912
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- Article
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans.
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- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0012-9
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- Article
The Translational Genomics Core at Partners Personalized Medicine: Facilitating the Transition of Research towards Personalized Medicine.
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- Journal of Personalized Medicine, 2016, v. 6, n. 1, p. 10, doi. 10.3390/jpm6010010
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- Article
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.806
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- Article
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 2, p. 143, doi. 10.1002/mgg3.187
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- Article
Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study.
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- Malaria Journal, 2018, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12936-018-2618-5
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- Article