Biblio

Author Title [ Type(Asc)] Year
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Journal Article
Kamal N, Khamirani HJafari, Mohammadi S, Dastgheib SAlireza, Dianatpour M, Tabei SMohammad B. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review. Eur J Med Genet. 2022:104522.
Khoddam S, Kamal N, Shiri A, Khamirani HJafari, Manoochehri J, Dianatpour M, Tabei SMohammad B, Dastgheib SAlireza. Two siblings with PEX11B-related peroxisome biogenesis disorder. Eur J Med Genet. 2024:104928.
Shafieipour N, Khamirani HJafari, Kamal N, Tabei SMohammad B, Dianatpour M, Dastgheib SAlireza. The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review. Eur J Med Genet. 2023:104707.
Faghihi F, Khamirani HJafari, Zoghi S, Kamal N, Yeganeh BShirazi, Dianatpour M, Tabei SMohammad B, Dastgheib SAlireza. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet. 2022:104449.
Khamirani HJafari, Zoghi S, Faghihi F, Dastgheib SAlireza, Hassanipour H, Tabei SMohammad B, Mohammadi S, Masoudi M, Poorang S, Ehsani E, et al. Phenotype of ST3GAL3 Deficient Patients: a Case and Review of the Literature. Eur J Med Genet. 2021:104250.
Shiri A, Khamirani HJafari, Kamal N, Manoochehri J, Dianatpour M, Tabei SMohammad B, Dastgheib SAlireza. Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation. Eur J Med Genet. 2023:104846.
Haghighi NFazelzadeh, Kamal N, Khamirani HJafari, Haghighi MFazelzadeh, Dastgheib SAlireza, Dianatpour M, Tabei SMohammad B. 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.
Ehsani E, Khamirani HJafari, Abbasi Z, Kamal N, Zoghi S, Mohammadi S, Dianatpour M, Tabei SMohammad B, Mohamadjani O, Dastgheib SAlireza. 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.