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3. A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. Issue 3 (7th August 2020)

6. Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Issue 5 (21st September 2020)

7. Movement Disorders in Adult Patients With Classical Galactosemia. Issue 6 (11th February 2013)