Found: 9
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Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0190-9
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- Publication type:
- Article
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
- Published in:
- 2014
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- Publication type:
- journal article
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 24843, doi. 10.1038/srep24843
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- Publication type:
- Article
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- Scientific Reports, 2016, p. 19531, doi. 10.1038/srep19531
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- Publication type:
- Article
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133624
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- Publication type:
- Article
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 1, p. e38, doi. 10.1111/aos.12486
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- Publication type:
- Article
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149473
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- Publication type:
- Article
PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2913, doi. 10.3390/ijms25052913
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- Publication type:
- Article
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients.
- Published in:
- BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/517570
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- Publication type:
- Article