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3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/876348
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- Publication type:
- Article
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.
- Published in:
- Scientific Reports, 2017, p. 39652, doi. 10.1038/srep39652
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- Publication type:
- Article
Author Correction: A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
- Published in:
- 2019
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- Correction Notice
A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.
- Published in:
- Ophthalmic Research, 2016, v. 56, n. 3, p. 123, doi. 10.1159/000445690
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- Publication type:
- Article
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33810-3
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- Publication type:
- Article