Items where Author is "Pourreza, M. R."

(2024) Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family. Egyptian Journal of Medical Human Genetics. p. 8. ISSN 1110-8630

(2023) A Homozygous Nonsense Variant in <i>UVSSA</i> Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran. Advanced Biomedical Research. p. 6. ISSN 2277-9175

(2023) Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. Plos One. p. 17. ISSN 1932-6203