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You searched for: Author/Creator Spinelli, Egidio

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1. Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34. Issue 11 (29th July 2019)

4. Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Issue 6 (8th April 2020)

5. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Issue 2 (13th July 2021)

6. Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly. Issue 4 (22nd March 2017)