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Department of Paediatric Neurology, Genetics and Neurosurgery, Leeds General Infirmary | 論文
- Neurological presentation of Griscelli syndrome : Obstructive hydrocephalus without haematological abnormalities or organomegaly
- Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease