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Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1816, doi. 10.3390/genes12111816
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- Publication type:
- Article
Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 4, p. 431, doi. 10.1111/aos.15022
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- Publication type:
- Article
An investigation into FOXE1 polyalanine tract length in premature ovarian failure.
- Published in:
- Molecular Human Reproduction, 2006, v. 12, n. 3, p. 145, doi. 10.1093/molehr/gal017
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- Publication type:
- Article
Molecular and phenotypic investigation of a New Zealand cohort of childhood‐onset retinal dystrophy.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 708, doi. 10.1002/ajmg.c.31836
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- Publication type:
- Article
Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 34, doi. 10.1111/cge.14415
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- Publication type:
- Article
Use of public sector diabetes eye services in New Zealand 2006–2019: Analysis of national routinely collected datasets.
- Published in:
- PLoS ONE, 2023, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0285904
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- Publication type:
- Article
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
- Published in:
- Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/6807809
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- Publication type:
- Article
Impact of TCF4 Repeat Number on Resolution of Corneal Edema after Descemet's Stripping Only in Fuchs Dystrophy: A Pilot Study.
- Published in:
- Vision (2411-5150), 2021, v. 5, n. 4, p. 1, doi. 10.3390/vision5040047
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- Publication type:
- Article
Mitochondrial disease in New Zealand: a nationwide prevalence study.
- Published in:
- Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
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- Publication type:
- Article
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
- Published in:
- 2013
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- Publication type:
- journal article
Genotypic and phenotypic characterisation of RP2‐ and RPGR‐associated X‐linked inherited retinal dystrophy, including female manifestations.
- Published in:
- Clinical & Experimental Ophthalmology, 2023, v. 51, n. 4, p. 300, doi. 10.1111/ceo.14220
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- Publication type:
- Article
Megalocornea, anterior megalophthalmos, keratoglobus and associated anterior segment disorders: A review.
- Published in:
- Clinical & Experimental Ophthalmology, 2021, v. 49, n. 5, p. 477, doi. 10.1111/ceo.13958
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- Publication type:
- Article
Diabetic eye disease and screening attendance by ethnicity in New Zealand: A systematic review.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 7, p. 937, doi. 10.1111/ceo.13528
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- Publication type:
- Article
Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
- Published in:
- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 901, doi. 10.1111/ceo.12983
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- Publication type:
- Article
Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.
- Published in:
- 2017
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- Publication type:
- Case Study
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 9, p. 757, doi. 10.1111/ceo.12783
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- Publication type:
- Article
Macular disease genetics and supplementation: the evidence for choosing wisely.
- Published in:
- 2016
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- Publication type:
- Editorial
Retinal haemorrhages in a child struck by a barbell.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 1, p. 64, doi. 10.1111/ceo.12574
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- Publication type:
- Article
Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.
- Published in:
- Clinical & Experimental Ophthalmology, 2014, v. 42, n. 1, p. 4, doi. 10.1111/ceo.12149
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- Publication type:
- Article
Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 4, p. e208, doi. 10.1111/j.1442-9071.2011.02714.x
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- Publication type:
- Article
Retinal haemorrhages in inflicted brain injury: the ophthalmologist in court - response.
- Published in:
- Clinical & Experimental Ophthalmology, 2011, v. 39, n. 1, p. 90, doi. 10.1111/j.1442-9071.2010.02406.x
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- Publication type:
- Article
Retinal haemorrhages in inflicted traumatic brain injury: the ophthalmologist in court.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 5, p. 521, doi. 10.1111/j.1442-9071.2010.02324.x
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- Publication type:
- Article
Role of genetic testing in retinoblastoma management at a tertiary referral centre.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, n. 3, p. 231, doi. 10.1111/j.1442-9071.2010.02239.x
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- Publication type:
- Article
Roads untraveled.
- Published in:
- 2010
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- Publication type:
- Editorial
A simple technique to minimize conjunctival haemorrhage following sub-Tenon's block.
- Published in:
- 2007
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- Publication type:
- Letter
Molecular characterization and clinical differentiation: a symbiotic relationship.
- Published in:
- 2006
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- Publication type:
- Editorial
Inherited corneal disease: the evolving molecular, genetic and imaging revolution.
- Published in:
- Clinical & Experimental Ophthalmology, 2005, v. 33, n. 3, p. 303, doi. 10.1111/j.1442-9071.2005.01011.x
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- Publication type:
- Article
Computerized corneal topography in a paediatric population with Down syndrome.
- Published in:
- Clinical & Experimental Ophthalmology, 2005, v. 33, n. 1, p. 47, doi. 10.1111/j.1442-9071.2005.00941.x
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- Publication type:
- Article
Searching for modifier genes.
- Published in:
- 2003
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- Publication type:
- Editorial
Prosthetic conformers: a step towards improved rehabilitation of enucleated children.
- Published in:
- Clinical & Experimental Ophthalmology, 2002, v. 30, n. 1, p. 58, doi. 10.1046/j.1442-9071.2002.00472.x
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- Publication type:
- Article
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1843, doi. 10.1002/ajmg.a.37685
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- Publication type:
- Article
VSX1: A gene for posterior polymorphous dystrophy and keratoconus.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1029, doi. 10.1093/hmg/11.9.1029
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- Publication type:
- Article