Items where Author is "Miryounesi, M."

Article

(2026) Analysis of whole-exome sequencing data from nearly 10,000 Iranian individuals: identification of recessive mitochondrial disease variants and proposal of a population-specific carrier screening panel. Human genomics. ISSN 1479-7364 (Electronic) 1473-9542 (Linking)

(2025) Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in medicine : official journal of the American College of Medical Genetics. p. 101251. ISSN 1530-0366 (Electronic) 1098-3600 (Linking)

(2024) Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome. Heliyon. p. 7.