Kimia Kahrizi
0000-0002-6587-7706
4 papers found
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Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families
Homozygous variants in the gene SCAPER cause syndromic intellectual disability
Variants in CIB2 cause DFNB48 and not USH1J
Exonic mutations and exon skipping: Lessons learned from DFNA5
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