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2. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Issue 22 (17th August 2016)

3. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Issue 2 (11th October 2021)

4. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. Issue 3 (15th January 2014)

6. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Issue 12 (December 2018)

7. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Issue 12 (December 2018)

8. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017)