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Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2637, doi. 10.1002/ajmg.a.40524
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- Article
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.
- Published in:
- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 875, doi. 10.1111/ceo.12982
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- Article
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.
- Published in:
- International Ophthalmology, 2023, v. 43, n. 10, p. 3659, doi. 10.1007/s10792-023-02774-3
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- Article
Retinal phenotypic characterization of patients with ABCA4 retinopathy due to the homozygous p.Ala1773Val mutation.
- Published in:
- Molecular Vision, 2018, v. 24, p. 105
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- Article