20 April 2019

The role of NGS method in the diagnosis of periodic fever syndrome

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6 September 2021

ELOVL4 mutation in a case with ichthyosis, spastic quadriplegia, and mental retardation syndrome (ISQMR)

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6 September 2021

A Novel Candidate Frameshift Mutation For Leigh Syndrome

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6 September 2021

A novel homozygous frameshift SPTBN2 gene mutation associated with Spinocerebellar Ataxia-14

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