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You searched for: Author/Creator Toro, Camilo

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

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

4. Neurological manifestations of Erdheim–Chester Disease. Issue 4 (29th March 2020)

5. P4‐707: A HYPOMORPH MUTATION OF THE TAU DISAGGREGASE VCP IS ASSOCIATED WITH VACUOLAR TAUOPATHY. (1st July 2019)

6. 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)

8. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. Issue 8 (13th January 2017)

10. Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. Issue 3 (14th December 2015)