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- 2023
-
Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
-
Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
- 2017
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
- 2016
-
Mark
Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa
(
- Contribution to journal › Article