Found: 11
Select item for more details and to access through your institution.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4294, doi. 10.3390/ijms23084294
- By:
- Publication type:
- Article
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
- Published in:
- Ophthalmic Research, 2024, v. 67, n. 1, p. 172, doi. 10.1159/000536036
- By:
- Publication type:
- Article
GNB1-Related Rod-Cone Dystrophy: A Case Report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
- Published in:
- Genes, 2019, v. 10, n. 12, p. 953, doi. 10.3390/genes10120953
- By:
- Publication type:
- Article
Morphological Reconstitution and Persistent Changes After Intravitreal Ocriplasmin for Vitreomacular Traction and Macular Hole.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 6, p. 1737, doi. 10.1007/s00417-023-06345-1
- By:
- Publication type:
- Article
Novel Maculopathy in Patients With Spinocerebellar Ataxia Type 1 Autofluorescence Findings and Functional Characteristics.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 4, p. 536, doi. 10.1001/jamaophthalmol.2013.1127
- By:
- Publication type:
- Article
Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange: a case report.
- Published in:
- BMC Ophthalmology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12886-023-03171-1
- By:
- Publication type:
- Article
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
- Published in:
- Human Mutation, 2010, v. 31, n. 5, p. E1361, doi. 10.1002/humu.21236
- By:
- Publication type:
- Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
- By:
- Publication type:
- Article