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You searched for: Author/Creator Markello, Thomas C.

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1. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

2. Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Issue 10 (14th July 2017)

3. Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. (3rd April 2021)

4. Cover Image, Volume 38, Issue 10. Issue 10 (14th September 2017)

7. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect. Issue 5 (8th November 2018)

8. MED23‐associated intellectual disability in a non‐consanguineous family. (2nd April 2015)