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Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability.
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- Journal of Personalized Medicine, 2022, v. 12, n. 3, p. 502, doi. 10.3390/jpm12030502
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- Article
A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy.
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- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 189, doi. 10.1007/s10633-023-09954-7
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- Article
Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.
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- Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 241, doi. 10.1007/s10633-023-09930-1
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- Article
Biomarkers in Usher syndrome: ultra-widefield fundus autofluorescence and optical coherence tomography findings and their correlation with visual acuity and electrophysiology findings.
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- Documenta Ophthalmologica, 2020, v. 141, n. 3, p. 205, doi. 10.1007/s10633-020-09765-0
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- Article
Prevalence of Glaucoma Following Paediatric Cataract Surgery in an Australian Tertiary Referral Centre.
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- Clinical Ophthalmology, 2023, v. 17, p. 2171, doi. 10.2147/OPTH.S400512
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- Article
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
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- Journal of Paediatrics & Child Health, 2024, v. 60, n. 4/5, p. 118, doi. 10.1111/jpc.16547
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- Article
Identification of missense MAB21L1 variants in microphthalmia and aniridia.
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- Human Mutation, 2021, v. 42, n. 7, p. 877, doi. 10.1002/humu.24218
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- Article
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 907, doi. 10.1038/ejhg.2013.268
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- Article
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 584, doi. 10.1038/ejhg.2011.234
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- Article
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
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- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 753, doi. 10.1038/ejhg.2011.11
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- Article
Novel SOX2 partner-factor domain mutation in a four-generation family.
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- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1417, doi. 10.1038/ejhg.2009.79
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- Article
Otolith chemistry and redistributions of Northern cod: evidence of Smith Sound – Bonavista Corridor connectivity.
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- Canadian Journal of Fisheries & Aquatic Sciences, 2018, v. 75, n. 12, p. 2302, doi. 10.1139/cjfas-2017-0357
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- Publication type:
- Article
Natural history and clinical biomarkers of progression in X‐linked retinitis pigmentosa: a systematic review.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. 499, doi. 10.1111/aos.14662
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- Article
Genomics and molecular mechanisms in glaucoma and anterior segment abnormalities.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8034
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- Article
Natural history and biomarkers of KCNV2‐associated retinopathy.
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- Clinical & Experimental Ophthalmology, 2024, v. 52, n. 5, p. 528, doi. 10.1111/ceo.14373
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- Article
Managing the apparently blind child presenting in the first year of life: A review.
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- Clinical & Experimental Ophthalmology, 2024, v. 52, n. 4, p. 452, doi. 10.1111/ceo.14348
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- Article
Spectrum of ocular disease in children aged between 0 and 3 years at an Australian paediatric tertiary hospital.
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- Clinical & Experimental Ophthalmology, 2023, v. 51, n. 6, p. 546, doi. 10.1111/ceo.14237
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- Article
Electronegative electroretinogram in the modern multimodal imaging era.
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- Clinical & Experimental Ophthalmology, 2022, v. 50, n. 4, p. 429, doi. 10.1111/ceo.14065
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- Article
Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015.
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- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 7, p. 574, doi. 10.1111/ceo.12734
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- Article
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
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- Clinical & Experimental Ophthalmology, 2015, v. 43, n. 2, p. 132, doi. 10.1111/ceo.12391
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- Article
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
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- 2008
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- Publication type:
- journal article
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 26, p. 5484, doi. 10.1093/hmg/dds393
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- Article
Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells.
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- Stem Cells International, 2021, p. 1, doi. 10.1155/2021/4536382
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- Publication type:
- Article
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
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- Nature Genetics, 1999, v. 22, n. 4, p. 400, doi. 10.1038/11976
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- Article
An epidemiological and clinical study of snake‐bites in childhood.
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- Medical Journal of Australia, 1989, v. 150, n. 12, p. 698, doi. 10.5694/j.1326-5377.1989.tb136764.x
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- Article
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.
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- Human Molecular Genetics, 2003, v. 12, n. 6, p. 585, doi. 10.1093/hmg/ddg063
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- Article
Domain disruption and mutation of the bZIP transcriptionfactor, MAF,associated with cataract, ocularanterior segment dysgenesis and coloboma.
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- Human Molecular Genetics, 2002, v. 11, n. 1, p. 33, doi. 10.1093/hmg/11.1.33
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- Publication type:
- Article
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
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- Human Mutation, 2016, v. 37, n. 4, p. 371, doi. 10.1002/humu.22948
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- Publication type:
- Article
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
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- Human Mutation, 2007, v. 28, n. 10, p. 968, doi. 10.1002/humu.20545
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- Article
Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 2, p. 81, doi. 10.1002/gcc.23006
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- Article
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
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- 2013
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- Publication type:
- Journal Article
Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum.
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- JAMA Ophthalmology, 2013, v. 131, n. 12, p. 1517, doi. 10.1001/jamaophthalmol.2013.5305
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- Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
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- Article
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3905, doi. 10.3390/ijms23073905
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- Article
The health care and societal costs of inherited retinal diseases in Australia: a microsimulation modelling study.
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- Medical Journal of Australia, 2023, v. 219, n. 2, p. 70, doi. 10.5694/mja2.51997
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- Article
Precision medicine in Australia: now is the time to get it right.
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- Medical Journal of Australia, 2023, v. 218, n. 7, p. 331, doi. 10.5694/mja2.51889
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- Article
Precision medicine in Australia: now is the time to get it right.
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- Medical Journal of Australia, 2022, v. 217, n. 11, p. 559, doi. 10.5694/mja2.51777
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- Article