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Clinical Characterization of LRPAP1 -Related Pediatric High Myopia

Ophthalmology (Rochester, Minn.), 2016-02, Vol.123 (2), p.434-435

2016

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1628-n/a

2021

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The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Journal of AAPOS, 2014-08, Vol.18 (4), p.362-367

2014

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Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Journal of AAPOS, 2015-12, Vol.19 (6), p.577-579

2015

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Elevation deficiency in children with recessive RDH12 -related retinopathy

Journal of AAPOS, 2015-12, Vol.19 (6), p.568-570

2015

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The distinct ophthalmic phenotype of Knobloch syndrome in children

British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895

2012

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Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Journal of AAPOS, 2013-12, Vol.17 (6), p.643-645

2013

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Clinical characterisation of the CABP4-related retinal phenotype

British journal of ophthalmology, 2013-03, Vol.97 (3), p.262-265

2013

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CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

Journal of AAPOS, 2012-12, Vol.16 (6), p.571-572

2012

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‘Cone dystrophy with supranormal rod response’ in children

British journal of ophthalmology, 2012-03, Vol.96 (3), p.422-426

2012

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Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Ophthalmology retina, 2024-02, Vol.8 (2), p.155-162

2024

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Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

American journal of ophthalmology, 2013-02, Vol.155 (2), p.361-372.e7

2013

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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Molecular vision, 2011, Vol.17, p.2570-2579

2011

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The RPGRIP1-related retinal phenotype in children

British journal of ophthalmology, 2013-06, Vol.97 (6), p.760-764

2013

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RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

Investigative ophthalmology & visual science, 2014-12, Vol.56 (2), p.1261-1266

2014

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Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Investigative ophthalmology & visual science, 2009-09, Vol.50 (9), p.4142-4145

2009

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Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

British journal of ophthalmology, 2012-05, Vol.96 (5), p.650-655

2012

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Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Ophthalmic genetics, 2015-03, Vol.36 (1), p.8-13

2015

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Genetic and genomic analysis of classic aniridia in Saudi Arabia

Molecular vision, 2011-03, Vol.17, p.708-714

2011

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Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

Molecular vision, 2009-07, Vol.15, p.1407-1411

2009

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Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

Ophthalmic genetics, 2012-06, Vol.33 (2), p.89-95

2012

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Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

Journal of medical genetics, 2010-04, Vol.47 (4), p.236-241

2010

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Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X

Archives of ophthalmology (1960), 2010-03, Vol.128 (3), p.344

2010

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Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X)

Archives of ophthalmology (1960), 2010-10, Vol.128 (10), p.1376

2010

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Clinical Characterization of LRPAP1 -Related Pediatric High Myopia

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Elevation deficiency in children with recessive RDH12 -related retinopathy

The distinct ophthalmic phenotype of Knobloch syndrome in children

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Clinical characterisation of the CABP4-related retinal phenotype

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

‘Cone dystrophy with supranormal rod response’ in children

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

The RPGRIP1-related retinal phenotype in children

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

Mutational Spectrum of SLC4A11 in Autosomal Recessive CHED in Saudi Arabia

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation

Genetic and genomic analysis of classic aniridia in Saudi Arabia

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome)

Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X)

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