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Gene|March 10, 2023
NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES resultsNeda Kamal, Hossein Jafari Khamirani, Mahintaj Dara, et al.
European Journal of Medical Genetics|May 26, 2022
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature reviewNeda Kamal, Hossein Jafari Khamirani, Sanaz Mohammadi, et al.
European Journal of Medical Genetics|January 29, 2023
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature reviewNegin Shafieipour, Hossein Jafari Khamirani, Neda Kamal, et al.
European Journal of Medical Genetics|September 21, 2023
Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutationAmirmasoud Shiri, Hossein Jafari Khamirani, Neda Kamal, et al.
European Journal of Medical Genetics|June 19, 2022
A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature reviewJamal Manoochehri, Neda Kamal, Hossein Jafari Khamirani, et al.
The Journal of Dermatology|June 3, 2023
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature reviewNegin Fazelzadeh Haghighi, Neda Kamal, Hossein Jafari Khamirani, et al.
European Journal of Medical Genetics|February 29, 2024
Two siblings with PEX11B-related peroxisome biogenesis disorderSomayeh Khoddam, Neda Kamal, Amirmasoud Shiri, et al.
European Journal of Medical Genetics|February 10, 2022
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1Fatemeh Faghihi, Hossein Jafari Khamirani, Sina Zoghi, et al.
Annals of Human Genetics|March 1, 2023
A novel nonsense variant in the ATL3 gene is associated with disturbed pain sensitivity, numbness of distal limbs and muscle weaknessSanaz Mohammadi, Hossein Jafari Khamirani, Maryam Baneshi, et al.
European Journal of Medical Genetics|June 9, 2024
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature reviewJamal Manoochehri, Amirmasoud Shiri, Somayeh Khoddam, et al.
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