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PMEL is mutated in oculocutaneous albinism.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 139, doi. 10.1007/s00439-022-02489-y
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- Publication type:
- Article
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1628
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- Publication type:
- Article
Case Report: Refractive Accommodative Esotropia Following Monocular Patching.
- Published in:
- American Orthoptic Journal, 2004, v. 54, p. 133, doi. 10.3368/aoj.54.1.133
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- Publication type:
- Article
Congenital Cranial Dysinnervation Disorder Complicated by Ipsilateral Orbital Choriostoma.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2022, v. 59, n. 6, p. e66, doi. 10.3928/01913913-20220907-01
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- Publication type:
- Article
Options in the Management of Reduced Vision in a Case of Ectopia Lentis.
- Published in:
- 2015
- By:
- Publication type:
- Proceeding
Amblyopia in Children Referred With Congenital Dacryostenosis From the Arabian Peninsula.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2013, v. 50, n. 6, p. 327, doi. 10.3928/01913913-20131009-01
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- Publication type:
- Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
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- Publication type:
- Article
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0137973
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- Publication type:
- Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
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- Publication type:
- Article
New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
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- Publication type:
- Article
Bilateral inverse globe retraction (Duane's) syndrome.
- Published in:
- 2007
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- Publication type:
- journal article
Congenital glaucoma and CYP1B1: an old story revisited.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z
- By:
- Publication type:
- Article
In search of triallelism in Bardet-Biedl syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
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- Publication type:
- Article
Postoperative Glaucoma Following Infantile Cataract Surgery: An Individual Patient Data Meta-analysis.
- Published in:
- 2014
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- Publication type:
- Journal Article
Postoperative Glaucoma Following Infantile Cataract Surgery.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 9, p. 1059, doi. 10.1001/jamaophthalmol.2014.1042
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- Publication type:
- Article
A Comparison of Rebound to Indentation Tonometry in Supine Sedated Children with Glaucoma.
- Published in:
- Middle East African Journal of Ophthalmology, 2016, v. 23, n. 2, p. 183, doi. 10.4103/0974-9233.179707
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- Publication type:
- Article
Ophthalmic Features of Outpatient Children Diagnosed with Intracranial Space-Occupying Lesions by Ophthalmologists.
- Published in:
- Middle East African Journal of Ophthalmology, 2015, v. 22, n. 3, p. 327, doi. 10.4103/0974-9233.159739
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- Publication type:
- Article
A Modern Approach to Incomitant Strabismus.
- Published in:
- Middle East African Journal of Ophthalmology, 2015, v. 22, n. 3, p. 263, doi. 10.4103/0974-9233.159687
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- Publication type:
- Article
Pupil-sparing Complete Third Nerve Palsy from Cryptogenic Midbrain Stroke in an Otherwise-Healthy Young Adult with Patent Foramen Ovale.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Response of Diabetic Papillopathy to Intravitreal Bevacizumab.
- Published in:
- 2011
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- Publication type:
- Case Study
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
- Published in:
- Middle East African Journal of Ophthalmology, 2011, v. 18, n. 1, p. 61, doi. 10.4103/0974-9233.75890
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- Publication type:
- Article
Intracranial Pathology in Young Children With Apparently Isolated Nystagmus.
- Published in:
- 2012
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- Publication type:
- Abstract
Posterior Chamber Intraocular Lens Stabilization With a Transcameral Stay Suture.
- Published in:
- 2012
- By:
- Publication type:
- Image
Pediatric Cataract in Uncontrolled Insulin-Dependent Diabetes Mellitus.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2010, v. 47, n. 6, p. 384, doi. 10.3928/01913913-20101104-08
- By:
- Publication type:
- Article
High Measured Intraocular Pressure in Children With Recessive Congenital Hereditary Endothelial Dystrophy.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2010, v. 47, n. 1, p. 29, doi. 10.3928/01913913-20100106-07
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- Publication type:
- Article
Infantile Facial Palsy With Exposure Keratitis.
- Published in:
- 2009
- By:
- Publication type:
- Image
Cerulean ("Blue-Dot") Cataract.
- Published in:
- 2009
- By:
- Publication type:
- Image
Ring Corneal Infiltrate and Progressive Ring Thinning Following Primary Varicella Infection.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2008, v. 45, n. 2, p. 116, doi. 10.3928/01913913-20080301-13
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- Publication type:
- Article
Restrictive Strabismus in Parry--Romberg Syndrome.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2007, v. 44, n. 1, p. 51, doi. 10.3928/01913913-20070101-09
- By:
- Publication type:
- Article
Buphthalmos Following Systemic Steroid Treatment.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2006, v. 43, n. 5, p. 311, doi. 10.3928/01913913-20060901-07
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- Publication type:
- Article
Corneal Ulcer in a Young Child With Autosomal Recessive Epidermolysis Bullosa.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2006, v. 43, n. 6, p. 370, doi. 10.3928/01913913-20061101-09
- By:
- Publication type:
- Article
Lack of Efficacy of Dilated Screening for Retinoblastoma.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2005, v. 42, n. 4, p. 205, doi. 10.3928/01913913-20050701-01
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- Publication type:
- Article
Alveolar Soft-Part Sarcoma of the Orbit.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 4, p. 245, doi. 10.3928/0191-3913-20040701-16
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- Publication type:
- Article
A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 6, p. 361, doi. 10.3928/01913913-20041101-10
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- Publication type:
- Article
PHENOTYPES OF RECESSIVE PEDIATRIC CATARACT IN A COHORT OF CHILDREN WITH IDENTIFIED HOMOZYGOUS GENE MUTATIONS (AN AMERICAN OPHTHALMOLOGICAL SOCIETY THESIS).
- Published in:
- Transactions of the American Ophthalmological Society, 2015, v. 113, p. T7-1
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- Publication type:
- Article
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.
- Published in:
- Molecular Vision, 2021, v. 27, p. 396
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- Publication type:
- Article
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
- Published in:
- Nature Communications, 2016, v. 7, n. 4, p. 1, doi. 10.1038/ncomms10953
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- Publication type:
- Article
A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
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- Publication type:
- Article
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 18, p. 3054, doi. 10.1093/hmg/ddaa198
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- Publication type:
- Article
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3113, doi. 10.1093/hmg/ddz137
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- Publication type:
- Article
Fundus autofluorescence imaging in hereditary retinal diseases.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 5, p. e549, doi. 10.1111/aos.13602
- By:
- Publication type:
- Article
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 7, p. 705, doi. 10.1111/aos.13411
- By:
- Publication type:
- Article
Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167562
- By:
- Publication type:
- Article
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0162620
- By:
- Publication type:
- Article
A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
- Published in:
- PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157005
- By:
- Publication type:
- Article
Rhegmatogenous retinal detachments in pediatric vitreoretinopathies in Saudi Arabia.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
- By:
- Publication type:
- Article
The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus ( MMCAT) Is Caused by Mutations in ADAMTS18.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1195, doi. 10.1002/humu.22374
- By:
- Publication type:
- Article
Molecular characterization of Joubert syndrome in Saudi Arabia.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1423, doi. 10.1002/humu.22134
- By:
- Publication type:
- Article