| Phenotype of ST3GAL3 deficient patients: A case and review of the literature HJ Khamirani, S Zoghi, F Faghihi, SA Dastgheib, H Hassanipour, ... European Journal of Medical Genetics 64 (8), 104250, 2021 | 15 | 2021 |
| ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review N Kamal, HJ Khamirani, S Mohammadi, SA Dastgheib, M Dianatpour, ... European Journal of Medical Genetics 65 (7), 104522, 2022 | 10 | 2022 |
| Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature HJ Khamirani, S Zoghi, ZM Namdar, N Kamal, M Dianatpour, SMB Tabei, ... Annals of Human Genetics, 2021 | 9 | 2021 |
| An analysis of inhibition of the severe acute respiratory syndrome coronavirus 2 RNA-dependent RNA polymerase by zinc ion: an in silico approach S Zoghi, HJ Khamirani, SA Dastgheib, M Dianatpour, A Ghaffarieh Future Virology 16 (5), 331-339, 2021 | 8 | 2021 |
| A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease H Jafari Khamirani, V Palicharla, S Dastgheib, M Dianatpour, M Imanieh, ... Frontiers in genetics 13, 2022 | 7 | 2022 |
| Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review HJ Khamirani, S Zoghi, A Motealleh, M Dianatpour, SMB Tabei, ... Molecular Syndromology, 1-8, 2022 | 6* | 2022 |
| Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1 F Faghihi, HJ Khamirani, S Zoghi, N Kamal, BS Yeganeh, M Dianatpour, ... European Journal of Medical Genetics 65 (3), 104449, 2022 | 6 | 2022 |
| A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature S Zoghi, HJ Khamirani, H Hassanipour, P Bostanian, R Masoudian, ... European Journal of Medical Genetics 64 (12), 104348, 2021 | 6 | 2021 |
| Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS HJ Khamirani, S Zoghi, AS Sichani, M Dianatpour, S Mohammadi, ... Journal of Genetics 100, 1-5, 2021 | 6 | 2021 |
| MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family Z Zeraatpisheh, AS Sichani, N Kamal, HJ Khamirani, S Zoghi, E Ehsani, ... Journal of Genetics 101 (1), 1-6, 2022 | 5 | 2022 |
| NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results N Kamal, HJ Khamirani, M Dara, M Dianatpour Gene 867, 147347, 2023 | 4 | 2023 |
| 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 … E Ehsani, HJ Khamirani, Z Abbasi, M Gohari, S Zoghi, S Mohammadi, ... European Journal of Medical Genetics 65 (8), 104552, 2022 | 4 | 2022 |
| A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report J Manoochehri, SA Dastgheib, HJ Khamirani, M Mollaie, Z Sharifi, S Zoghi, ... Human Genome Variation 8 (1), 33, 2021 | 4 | 2021 |
| A novel PTRH2 missense mutation causing IMNEPD: a case report HJ Khamirani, S Zoghi, M Dianatpour, A Jankhah, SS Tabei, ... Human Genome Variation 8 (1), 23, 2021 | 4 | 2021 |
| A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weakness S Mohammadi, H Jafari Khamirani, M Baneshi, N Kamal, J Manoocheri, ... Annals of Human Genetics 87 (4), 147-157, 2023 | 3 | 2023 |
| The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review N Shafieipour, HJ Khamirani, N Kamal, SMB Tabei, M Dianatpour, ... European Journal of Medical Genetics 66 (4), 104707, 2023 | 3 | 2023 |
| A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review J Manoochehri, N Kamal, HJ Khamirani, S Zoghi, MF Haghighi, ... European Journal of Medical Genetics 65 (8), 104535, 2022 | 3 | 2022 |
| Analysis of DYRK1B, PPARG, and CEBPB expression patterns in adipose-derived stem cells from patients carrying DYRK1B R102C and healthy individuals during adipogenesis A Armanmehr, H Jafari Khamirani, S Zoghi, M Dianatpour Metabolic Syndrome and Related Disorders 20 (10), 576-583, 2022 | 2 | 2022 |
| Severe phenotype of an Iranian patient with methemoglobinemia type II due to a novel mutation in the CYB5R3 gene J Manoochehri, HR Goodarzi, M Jafarinia, HJ Khamirani, SMB Tabei Iranian Journal of Pediatric Hematology & Oncology, 2021 | 2 | 2021 |
| A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant A Anushiravani, HJ Khamirani, A Mohamadkhani, A Mani, M Dianatpour, ... Archives of Iranian medicine 26 (2), 86, 2023 | 1 | 2023 |
Mehdi DianatpourAssociate professor of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, IranOverená e-mailová adresa na: sums.ac.ir
