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Genetic basis of total colourblindness among the Pingelapese islanders

Nature genetics, 2000-07, Vol.25 (3), p.289-293

2000

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Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

The Journal of pediatrics, 1999-10, Vol.135 (4), p.494-499

1999

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Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

Human molecular genetics, 1997-05, Vol.6 (5), p.665-668

1997

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Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

Proceedings of the National Academy of Sciences - PNAS, 1991-08, Vol.88 (15), p.6481-6485

1991

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A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype

Investigative ophthalmology & visual science, 2000-07, Vol.41 (8), p.2076-2079

2000

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Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy

Genomics (San Diego, Calif.), 1999-05, Vol.58 (1), p.98-101

1999

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Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

American journal of ophthalmology, 1993-03, Vol.115 (3), p.360-367

1993

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Molecular Genetics of Human Blue Cone Monochromacy

Science (American Association for the Advancement of Science), 1989-08, Vol.245 (4920), p.831-838

1989

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

American journal of ophthalmology, 1998, Vol.125 (1), p.64-70

1998

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Identification of novel rhodopsin mutations responsible for retinitis pigmentosa : implications for the structure and function of rhodopsin

American journal of human genetics, 1993-07, Vol.53 (1), p.80-89

1993

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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

Genomics (San Diego, Calif.), 1996-05, Vol.33 (3), p.523-526

1996

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Strabismus in the Marfan Syndrome

American journal of ophthalmology, 1994-05, Vol.117 (5), p.632-635

1994

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Congenital Motor Nystagmus Linked to Xq26-q27

American journal of human genetics, 1999-02, Vol.64 (2), p.600-607

1999

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Ocular Findings in Cockayne Syndrome

American journal of ophthalmology, 1992-11, Vol.114 (5), p.579-583

1992

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Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1)

Journal of medical genetics, 1998-08, Vol.35 (8), p.641-645

1998

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A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

American journal of ophthalmology, 2000-12, Vol.130 (6), p.803-812

2000

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A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis

Ophthalmic genetics, 2006-03, Vol.27 (1), p.15-20

2006

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Ocular Histopathologic Characteristics of Cobalamin C Type Vitamin B12 Defect With Methylmalonic Aciduria and Homocystinuria

American journal of ophthalmology, 1992-03, Vol.113 (3), p.269-280

1992

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Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Molecular genetics and metabolism, 2000-06, Vol.70 (2), p.142-150

2000

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Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

European journal of human genetics : EJHG, 2003-05, Vol.11 (5), p.420-423

2003

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Ehlers-Danlos syndrome

The Journal of pediatrics, 1999-10, Vol.135 (4), p.513-513

1999

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The natural history of Leber's congenital amaurosis : age-related findings in 35 patients

Ophthalmology (Rochester, MN), 1992-02, Vol.99 (2), p.241-245

1992

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A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome)

American journal of ophthalmology, 1990-11, Vol.110 (5), p.550-561

1990

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Ocular findings in trigonocephaly

Graefe's archive for clinical and experimental ophthalmology, 1994-12, Vol.232 (12), p.728-733

1994

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Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis

Gut, 1991-10, Vol.32 (10), p.1170-1174

1991

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Genetic basis of total colourblindness among the Pingelapese islanders

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human β-Crystallin Gene CRYBB2

Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

A CRX Null Mutation Is Associated with Both Leber Congenital Amaurosis and a Normal Ocular Phenotype

Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy

Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

Molecular Genetics of Human Blue Cone Monochromacy

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa : implications for the structure and function of rhodopsin

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

Strabismus in the Marfan Syndrome

Congenital Motor Nystagmus Linked to Xq26-q27

Ocular Findings in Cockayne Syndrome

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1)

A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy

A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis

Ocular Histopathologic Characteristics of Cobalamin C Type Vitamin B12 Defect With Methylmalonic Aciduria and Homocystinuria

Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

Ehlers-Danlos syndrome

The natural history of Leber's congenital amaurosis : age-related findings in 35 patients

A clinicopathologic study of the eyes in familial adenomatous polyposis with extracolonic manifestations (Gardner's syndrome)

Ocular findings in trigonocephaly

Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis

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