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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 933, doi. 10.1007/s00439-021-02255-6
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- Article
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1375
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- Article
A Rapid Transcriptome Response Is Associated with Desiccation Resistance in Aerially-Exposed Killifish Embryos
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- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064410
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- Article
New insights into molecular pathways associated with flatfish ovarian development and atresia revealed by transcriptional analysis.
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- BMC Genomics, 2009, v. 10, p. 434, doi. 10.1186/1471-2164-10-434
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- Article
Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3.
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- Clinical Genetics, 2020, v. 98, n. 4, p. 384, doi. 10.1111/cge.13811
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- Article
The Dct −/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1164, doi. 10.3390/genes13071164
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- Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.
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- Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915
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- Article
The zebrafish genome encodes the largest vertebrate repertoire of functional aquaporins with dual paralogy and substrate specificities similar to mammals.
- Published in:
- BMC Evolutionary Biology, 2010, v. 10, p. 1, doi. 10.1186/1471-2148-10-38
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- Article
Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication.
- Published in:
- BMC Evolutionary Biology, 2008, v. 8, p. 1, doi. 10.1186/1471-2148-8-259
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- Article