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Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 828, doi. 10.1002/ajmg.c.31843
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- Article
Cover, Volume 41, Issue 8.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. ii, doi. 10.1002/humu.24099
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- Article
Genotype–phenotype associations in a large PRPH2‐related retinopathy cohort.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1528, doi. 10.1002/humu.24065
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- Article
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 675, doi. 10.3390/genes13040675
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- Article
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1010129
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- Article