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Published Papers
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Scientific Publications
Published Papers
20 April 2019
The role of NGS method in the diagnosis of periodic fever syndrome
6 September 2021
ELOVL4 mutation in a case with ichthyosis, spastic quadriplegia, and mental retardation syndrome (ISQMR)
6 September 2021
A Novel Candidate Frameshift Mutation For Leigh Syndrome
6 September 2021
A novel homozygous frameshift SPTBN2 gene mutation associated with Spinocerebellar Ataxia-14
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