26 results on '"Rinaldi, Ernesto"'
Search Results
2. An Italian Family Affected by Autosomal Dominant Microcephaly With Chorioretinal Degeneration
3. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
4. Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa
5. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
6. Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients
7. Genotype-Phenotype Correlation in Italian Families with Stargardt Disease
8. Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family
9. Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
10. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
11. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
12. Apolipoprotein E Polymorphisms in Age-Related Macular Degeneration in an Italian Population
13. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
14. Evaluation of Fatty Acids in Membrane Phospholipids of Erythrocytes in Retinitis pigmentosa Patients
15. Fatty Acid Composition of Membrane Phospholipids of Cataractous Human Lenses
16. ArF 193 nm Excimer Laser Corneal Surgery as a Possible Risk Factor in Cataractogenesis
17. Systemic human diseases as oxidative risk factors in cataractogenesis. II. Chronic renal failure
18. Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.
19. TREATMENT OF HYPERORNITHINAEMIA AND GYRATE ATROPHY OF CHOROID AND RETINA WITH LOW-PROTEIN DIET
20. Chronobiology and Closed-Angle Glaucoma
21. Red cell glutathione as a marker of tobacco smoke-induced optic neuropathy
22. Effect of vitamin E on glutathione content in red blood cells, aqueous humor and lens of humans and other species
23. Ocular signs associated with a rhodopsin mutation (Cys-167 → Arg) in a family with autosomal dominant retinitis pigmentosa.
24. Morning glory syndrome with chronic simple glaucoma
25. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration
26. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.
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