Items where Author is "Shakarami, F."

Article

(2023) A novel <i>METTL5</i> variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review. Journal of Genetics. p. 7. ISSN 0022-1333

(2023) A novel METTL5 variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review. Journal of Genetics. ISSN 0973-7731 (Electronic) 0022-1333 (Linking)

(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the <i>ATRX</i> gene. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269

(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. Mol Genet Genomic Med. e2034. ISSN 2324-9269