Sten Andréasson
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- 2019
-
Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2018
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Mark
Cerebral Functional Magnetic Resonance Imaging and Multifocal Visual Evoked Potentials in a Patient with Unexplained Impairment of Visual Function : A Case Report
(
- Contribution to journal › Article
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Mark
Presence of chronic diabetic foot ulcers is associated with more frequent and more advanced retinopathy
(
- Contribution to journal › Article
- 2017
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Mark
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
(
- Contribution to journal › Article
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Mark
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
(
- Contribution to journal › Article
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Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
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Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
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Mark
Reduction of rod and cone function in 6.5-year-old children born extremely preterm
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- Contribution to journal › Article
- 2016
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Mark
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
(
- Contribution to journal › Article
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Mark
Aryl Hydrocarbon Receptor-Interacting Protein-Like 1 in Cancer-Associated Retinopathy.
2016) In Ophthalmology(
- Contribution to journal › Article
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Mark
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function
(
- Contribution to journal › Article
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Mark
Macular function in preterm children at school age
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- Contribution to journal › Article
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Mark
Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene
(
- Contribution to journal › Article
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
(
- Contribution to journal › Article