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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Neurogenetics, 2008-07, Vol.9 (3), p.207-214

2008

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Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors

Thrombosis and haemostasis, 2005-06, Vol.93 (6), p.1021-1026

2005

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Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy

Case reports in ophthalmology, 2022-05, Vol.13 (2), p.341-349

2022

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Patients with Sjögren-Larsson Syndrome Lack Macular Pigment

Ophthalmology (Rochester, Minn.), 2010-05, Vol.117 (5), p.966-971

2010

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Incidence of retinoblastoma in children born after in-vitro fertilisation

The Lancet (British edition), 2003-01, Vol.361 (9354), p.309-310

2003

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Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors

British journal of ophthalmology, 2023-02, Vol.107 (2), p.248-253

2023

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Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography

Ophthalmology (Rochester, Minn.), 2008-05, Vol.115 (5), p.870-875

2008

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Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

European journal of pediatrics, 2018-08, Vol.177 (8), p.1293-1298

2018

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Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

Ophthalmology (Rochester, Minn.), 2016-10, Vol.123 (10), p.2137-2146

2016

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Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Annals of otology, rhinology & laryngology, 2010-12, Vol.119 (12), p.806-814

2010

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Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome

Audiology & neurotology, 2012-01, Vol.17 (4), p.219-227

2012

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Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren‐Larsson syndrome

Acta ophthalmologica (Oxford, England), 2016-11, Vol.94 (7), p.e663-e664

2016

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Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

Annals of otology, rhinology & laryngology, 2007-05, Vol.116 (5), p.349-357

2007

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Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

British journal of ophthalmology, 2013-05, Vol.97 (5), p.583-587

2013

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Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration

Ophthalmology retina, 2019-06, Vol.3 (6), p.500-509

2019

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Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

Molecular vision, 2010-01, Vol.16, p.26-35

2010

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Let us be clear: A cornea has no axis; a cornea has meridians

Journal of cataract and refractive surgery, 2012-05, Vol.38 (5), p.923-923

2012

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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Neurogenetics, 2009-02, Vol.10 (1), p.87-87

2009

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Endogenous endophthalmitis after otitis media

American journal of ophthalmology, 2004, Vol.137 (1), p.202-204

2004

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The neuro-ophthalmology of multiple sclerosis

Lancet neurology, 2005-04, Vol.4 (4), p.209-209

Cruysberg, Johannes RM

2005

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Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

Neurology, 2003-08, Vol.61 (3), p.327

2003

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Cochleovestibular and ocular features in a Dutch DFNA11 family

Otology & neurotology, 2006-04, Vol.27 (3), p.323-331

2006

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Vertical Corneal Striae in Families with Autosomal Dominant Hearing Loss: DFNA9/ COCH

American journal of ophthalmology, 2007-05, Vol.143 (5), p.847-852.e6

2007

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Recurrence of paraproteinemic crystalline keratopathy after corneal transplantation: A case of monoclonal gammopathy of ocular significance

American journal of ophthalmology case reports, 2020-09, Vol.19, p.100803, Article 100803

2020

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Clinical Neuroembryology: Development and Developmental Disorders of the Human Central Nervous System

Third edition, 2023

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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors

Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy

Patients with Sjögren-Larsson Syndrome Lack Macular Pigment

Incidence of retinoblastoma in children born after in-vitro fertilisation

Charles Bonnet syndrome in patients with Stargardt disease: prevalence and risk factors

Subclinical Changes in the Juvenile Crystalline Macular Dystrophy in Sjögren–Larsson Syndrome Detected by Optical Coherence Tomography

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients

Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren‐Larsson syndrome

Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

Let us be clear: A cornea has no axis; a cornea has meridians

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Endogenous endophthalmitis after otitis media

The neuro-ophthalmology of multiple sclerosis

Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment

Cochleovestibular and ocular features in a Dutch DFNA11 family

Vertical Corneal Striae in Families with Autosomal Dominant Hearing Loss: DFNA9/ COCH

Recurrence of paraproteinemic crystalline keratopathy after corneal transplantation: A case of monoclonal gammopathy of ocular significance

Clinical Neuroembryology: Development and Developmental Disorders of the Human Central Nervous System

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