Found: 12
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Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy.
- Published in:
- Human Genetics, 2018, v. 137, n. 10, p. 779, doi. 10.1007/s00439-018-1936-6
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- Article
Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing.
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- Nucleic Acids Research, 2021, v. 49, n. 4, p. 2027, doi. 10.1093/nar/gkab003
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- Article
A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.1046096
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- Article
Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1170720
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- Article
Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 16, p. 4648, doi. 10.1093/hmg/ddv197
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- Article
Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration.
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- PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1009841
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- Article
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.
- Published in:
- Scientific Reports, 2017, p. 46098, doi. 10.1038/srep46098
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- Article
Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.
- Published in:
- Scientific Reports, 2016, p. 24226, doi. 10.1038/srep24226
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- Article
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01697-3
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- Article
A Mettl16/m<sup>6</sup>A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells.
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- EMBO Journal, 2024, v. 43, n. 10, p. 1990, doi. 10.1038/s44318-024-00082-9
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- Article
A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.
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- Molecular Vision, 2020, v. 26, p. 670
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- Article
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article