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3. A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. Issue 5 (9th March 2020)

4. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency. Issue 1 (8th November 2017)

5. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (13th February 2018)

6. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

7. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. (2nd January 2018)

8. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. Issue 6 (4th August 2020)

9. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Issue 7 (4th June 2021)

10. Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. Issue 1 (December 2015)