Search

Search Constraints

You searched for: Author/Creator Si, Yue

Search Results

6. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. (5th June 2020)

7. Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. Issue 2 (23rd November 2020)

9. A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. Issue 2 (24th June 2020)

10. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Issue 6 (15th April 2021)