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- 2022
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
(
- Contribution to journal › Article
- 2021
-
Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
(
- Contribution to journal › Article
- 2009
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Mark
Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7)
(
- Contribution to journal › Article
- 2002
-
Mark
Retinal dysfunction and anterior segment deposits in a patient treated with rifabutin
(
- Contribution to journal › Article