Biblio
] . Two siblings with PEX11B-related peroxisome biogenesis disorder. Eur J Med Genet. 2024:104928.
. Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review. J Dermatol. 2023.
. Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation. Eur J Med Genet. 2023:104846.
. Pyridoxamine protects human granulosa cells against advanced glycation end-products-induced steroidogenesis disturbances. Mol Biol Rep. 2023.
. The Role of Circular RNAs in Male Infertility and Reproductive Cancers: A Narrative Review. Iran J Med Sci. 2023;48(6):527-541.
. The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review. Eur J Med Genet. 2023:104707.
. Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review. Eur J Med Genet. 2022:104552.
. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. Eur J Med Genet. 2022:104522.
. Creating Cell and Animal Models of Human Disease by Genome Editing Using CRISPR/Cas9. J Gene Med. 2019:e3082.