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- 2024
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Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
- 2023
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Mark
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
(
- Contribution to journal › Article
- 2019
-
Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
- 2017
-
Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article