Found: 15
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Concurrent hearing and genetic screening in a general newborn population.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 521, doi. 10.1007/s00439-020-02118-6
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- Article
RhesusBase PopGateway: Genome-Wide Population Genetics Atlas in Rhesus Macaque.
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- Molecular Biology & Evolution, 2016, v. 33, n. 5, p. 1370, doi. 10.1093/molbev/msw025
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- Article
Selectively Constrained RNA Editing Regulation Crosstalks with piRNA Biogenesis in Primates.
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- Molecular Biology & Evolution, 2015, v. 32, n. 12, p. 3143, doi. 10.1093/molbev/msv183
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- Article
Evolutionary Interrogation of Human Biology in Well-Annotated Genomic Framework of Rhesus Macaque.
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- Molecular Biology & Evolution, 2014, v. 31, n. 5, p. 1, doi. 10.1093/molbev/msu084
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- Article
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
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- Clinical Chemistry, 2023, v. 69, n. 7, p. 763, doi. 10.1093/clinchem/hvad046
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- Article
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83493-6
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- Article
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00948-5
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- Article
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
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- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0531-6
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- Publication type:
- Article
Emergence, Retention and Selection: A Trilogy of Origination for Functional De Novo Proteins from Ancestral LncRNAs in Primates.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 7, p. 1, doi. 10.1371/journal.pgen.1005391
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- Article
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.
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- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/9517114
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- Article
Cover, Volume 42, Issue 12.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. i, doi. 10.1002/humu.24295
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- Article
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss.
- Published in:
- Human Mutation, 2021, v. 42, n. 12, p. 1567, doi. 10.1002/humu.24277
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- Article
Cover, Volume 41, Issue 9.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. i, doi. 10.1002/humu.24098
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- Article
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1488, doi. 10.1002/humu.24051
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- Publication type:
- Article
Evolutionarily significant A-to-I RNA editing events originated through G-to-A mutations in primates.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1638-y
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- Article