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- 2024
-
Mark
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants
(
- Contribution to journal › Article
- 2020
-
Mark
New generation genetic testing entering the clinic
(
- Contribution to journal › Article
- 2019
-
Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
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Mark
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia
(
- Contribution to journal › Article
- 2018
-
Mark
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
(
- Contribution to journal › Article
- 2012
-
Mark
Friedreich ataxia in patients with FXN p.R165P point mutation.
(
- Contribution to journal › Published meeting abstract