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Clinical Protocols for the Evaluation of Rod Function.
- Published in:
- Ophthalmologica, 2021, v. 244, n. 5, p. 396, doi. 10.1159/000510888
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- Publication type:
- Article
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
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- European Journal of Pediatrics, 2012, v. 171, n. 10, p. 1453, doi. 10.1007/s00431-012-1745-1
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- Publication type:
- Article
Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
- Published in:
- 2010
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- Publication type:
- journal article
Various approaches for accessing the influence of human leukocyte antigens disparity in haploidentical stem cell transplantation.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 3, p. 547, doi. 10.1111/ijlh.13801
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- Publication type:
- Article
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2709, doi. 10.3390/ijms24032709
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- Publication type:
- Article
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6868, doi. 10.3390/ijms23126868
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- Publication type:
- Article
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3240, doi. 10.3390/ijms23063240
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- Publication type:
- Article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Publication type:
- Article
Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12717, doi. 10.3390/ijms222312717
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- Publication type:
- Article
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10352, doi. 10.3390/ijms221910352
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- Publication type:
- Article
Clinical Characteristics of POC1B -Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5396, doi. 10.3390/ijms22105396
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- Publication type:
- Article
Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2374, doi. 10.3390/ijms22052374
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- Publication type:
- Article
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 850, doi. 10.3390/ijms22020850
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- Publication type:
- Article
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 24, p. 6274, doi. 10.3390/ijms20246274
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- Publication type:
- Article
Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2120
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- Publication type:
- Article
Influence of open-source virtual-reality based gaze training on navigation performance in Retinitis pigmentosa patients in a crossover randomized controlled trial.
- Published in:
- PLoS ONE, 2024, v. 19, n. 2, p. 1, doi. 10.1371/journal.pone.0291902
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- Publication type:
- Article
Auditory and olfactory findings in patients with USH2A‐related retinal degeneration—Findings at baseline from the rate of progression in USH2A‐related retinal degeneration natural history study (RUSH2A).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3717, doi. 10.1002/ajmg.a.62437
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- Publication type:
- Article
Interim Results of a Multicenter Trial with the New Electronic Subretinal Implant Alpha AMS in 15 Patients Blind from Inherited Retinal Degenerations.
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- Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00445
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- Publication type:
- Article
Age-dependencies of the electroretinogram in healthy subjects.
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- Documenta Ophthalmologica, 2024, v. 149, n. 2, p. 99, doi. 10.1007/s10633-024-09991-w
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- Publication type:
- Article
S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.
- Published in:
- Documenta Ophthalmologica, 2024, v. 149, n. 1, p. 11, doi. 10.1007/s10633-024-09981-y
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- Publication type:
- Article
An early onset cone dystrophy due to CEP290 mutation: a case report.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 203, doi. 10.1007/s10633-023-09940-z
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- Publication type:
- Article
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
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- Documenta Ophthalmologica, 2019, v. 139, n. 2, p. 151, doi. 10.1007/s10633-019-09704-8
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- Publication type:
- Article
Erbliche Netzhaut‑, Aderhaut- und Sehbahnerkrankungen: S1-Leitlinie der Deutschen Ophthalmologischen Gesellschaft (DOG), der Retinologischen Gesellschaft (RG) und des Berufsverbands der Augenärzte Deutschlands e. V. (BVA). Version: 18. September 2021
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- Die Ophthalmologie, 2023, v. 120, p. 44, doi. 10.1007/s00347-022-01777-2
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- Publication type:
- Article
Deutsches Referenznetzwerk für Seltene Augenerkrankungen (DRN-EYE). Der Weg zur bundesweiten Vernetzung.
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- Die Ophthalmologie, 2022, v. 119, n. 10, p. 1017, doi. 10.1007/s00347-022-01644-0
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- Publication type:
- Article
Optical Coherence Tomography in Patients With the Subretinal Implant Retina Implant Alpha IMS.
- Published in:
- 2017
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- Publication type:
- journal article
The Insulin-Mediated Modulation of Visually Evoked Magnetic Fields Is Reduced in Obese Subjects.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019482
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- Publication type:
- Article
Determination of HLA-A, -B, and -DRB1 Allele and Haplotype Frequencies in the Croatian Population Based on a Family Study.
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- Archivum Immunologiae & Therapiae Experimentalis, 2016, v. 64, p. 83, doi. 10.1007/s00005-016-0445-3
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- Publication type:
- Article
Adaptive optics retinal imaging in patients with usher syndrome.
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- Frontiers in Ophthalmology, 2024, p. 1, doi. 10.3389/fopht.2024.1349234
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- Publication type:
- Article
Defining reference values of arterioles in healthy individuals for studies with adaptive optics imaging.
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- Frontiers in Ophthalmology, 2024, p. 1, doi. 10.3389/fopht.2024.1348900
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- Publication type:
- Article
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
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- Publication type:
- Article
Serum Fibrinogen and Renal Dysfunction as Important Predictors of Left Atrial Thrombosis in Patients with Atrial Fibrillation.
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- Journal of Clinical Medicine, 2023, v. 12, n. 19, p. 6246, doi. 10.3390/jcm12196246
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- Publication type:
- Article
Mapping the Human Leukocyte Antigen Diversity among Croatian Regions: Implication in Transplantation.
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- 2021
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- Publication type:
- journal article
Influence of Systematic Gaze Patterns in Navigation and Search Tasks with Simulated Retinitis Pigmentosa.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 223, doi. 10.3390/brainsci11020223
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- Publication type:
- Article
Pilot Study of the Association between the HLA Region and Testicular Carcinoma among Croatian Patients.
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- Urologia Internationalis, 2011, v. 87, n. 3, p. 288, doi. 10.1159/000329770
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- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
Rapid Prenatal Diagnosis of Numerical Aberrations of Chromosome 21 and 18 by PCR-STR Method.
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- Collegium Antropologicum, 2007, v. 31, n. 3, p. 859
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- Publication type:
- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Relationship of Polymorphisms Located in Tumor Necrosis Factor Region and HLA Loci Among Croatians.
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- American Journal of Human Biology, 2009, v. 21, n. 2, p. 220, doi. 10.1002/ajhb.20853
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- Publication type:
- Article
The influence of tumor necrosis factor microsatellite polymorphisms on patient survival following hematopoietic stem cell transplantation.
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- Croatian Medical Journal, 2012, v. 53, n. 1, p. 24, doi. 10.3325/cmj.2012.53.24
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- Publication type:
- Article
Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.
- Published in:
- Croatian Medical Journal, 2011, v. 52, n. 3, p. 392, doi. 10.3325/cmj.2011.52.392
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- Publication type:
- Article
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 3, p. 431, doi. 10.1093/hmg/ddac211
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- Publication type:
- Article
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net.
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- Ophthalmic Research, 2023, v. 66, n. 1, p. 550, doi. 10.1159/000528716
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- Publication type:
- Article
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73557-4
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- Publication type:
- Article
A morphometric analysis of the retinal arterioles with adaptive optics imaging in RPE65‐associated retinal dystrophy after treatment with voretigene neparvovec.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 3, p. e358, doi. 10.1111/aos.15765
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- Publication type:
- Article
Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1539, doi. 10.1111/aos.15183
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- Publication type:
- Article
Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 3, p. e807, doi. 10.1111/aos.14990
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- Publication type:
- Article
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 3, p. e847, doi. 10.1111/aos.14958
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- Publication type:
- Article
Restriction of eye motility in patients with RETINA IMPLANT Alpha AMS.
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- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 8, p. e998, doi. 10.1111/aos.14435
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- Publication type:
- Article
Changes in microchip position after implantation of a subretinal vision prosthesis in humans.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 6, p. e871, doi. 10.1111/aos.14077
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- Publication type:
- Article