35 results on '"Lorenz, Birgit"'
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2. Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration
3. Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation–Associated Inherited Retinal Degeneration in a Clinical Setting
4. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Patients with Inherited Retinal Disease from the United Kingdom
5. Extraocular muscle ductions following nasal transposition of the split lateral rectus muscle
6. Nasal Transposition of the Split Lateral Rectus Muscle for Strabismus Associated With Bilateral 3rd-Nerve Palsy
7. Artificial Intelligence for Retinopathy of Prematurity: Validation of a Vascular Severity Scale against International Expert Diagnosis
8. International Classification of Retinopathy of Prematurity, Third Edition
9. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
10. Precision of bag-in-the-lens intraocular lens power calculation in different age groups of pediatric cataract patients: Report of the Giessen Pediatric Cataract Study Group
11. The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
12. New Scleral Depressor Marker for Retinal Detachment Surgery
13. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
14. OCT Angiography in Young Children with a History of Retinopathy of Prematurity
15. Development of a Reporter System to Explore MMEJ in the Context of Replacing Large Genomic Fragments
16. Evaluation of tolerance to lentiviral LV-RPE65 gene therapy vector after subretinal delivery in non-human primates
17. The Brückner Transillumination Test: Limited Detection of Small-Angle Esotropia
18. Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65
19. Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates
20. Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data
21. Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
22. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
23. Retinopathy of prematurity classification updates: possible implications for treatment
24. CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
25. A Comprehensive Survey of Sequence Variation in the ABCA4 ( ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
26. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
27. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
28. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
29. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
30. 137. Analysis of Cas9-FokI and TALE-MutH Endonuclease Activity and Toxicity as Key Elements in the Development of a Gene Therapeutic Approach to Treat XLRP
31. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
32. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
33. FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
34. Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
35. Constitutional RB1-Gene Mutations in Patients with Isolated Unilateral Retinoblastoma
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