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- 2019
-
Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2017
-
Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
-
Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
- 2011
-
Mark
Phenotypes in Defined Genotypes Including Siblings with Usher Syndrome.
(
- Contribution to journal › Article
-
Mark
Alteration of rod and cone function in children with Usher syndrome.
(
- Contribution to journal › Article
- 2008
-
Mark
Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
(
- Contribution to journal › Article