مقالات در نشریات

نمایش ۱ تا ۱۰ مورد از کل ۱۰ مورد.

1. Hasan Azizi , Mortaza Bonyadi , Abbas Rafat,A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome,Human Genome Variation,2024 03 20.
2. Hossein Ahmed Hashim , Morteza Bonyadi , Seyed Abbas Rafat,IDENTIFICATION AND BIOINFORMATICS ANALYSIS OF TWO NOVEL VARIANTS IN THE SEMA4A AND SCP2 GENES IN A PATIENT WITH EARLY-ONSET VISUAL IMPAIRMENT AND LEUKODYSTROPHY.,Journal of Population Therapeutics& Clinical Pharmacology,2024 01 20.
3. Sahand Mirzaei Dizaji , Amir Amandi , Morteza Bonyadi,Identification and bioinformatics analysis of a novel mutation in PLA2G6 gene in a patient with neurodegenerative disorder,Gene Reports,2023 10 25.
4. Amir Reza Dalal Amandi , Neda Jabbarpour , Shadi Shiva , Mortaza Bonyadi,Identification of Two Novel Pathogenic Variants of the ATM Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome Sequencing,current Genomics,2023 10 20.
5. Neda Jabbarpour , Morteza Bonyadi , Leyla Sadeghi,A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc‑binding affinity,Molecular Biology Reports,2023 08 20.
6. Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome,Molecular Syndromology,2023 08 20.
7. Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion,Journal of Genetics,2023 01 20.
8. Saba A. Nazm et al.,Spectrum of MECP2 mutations in Iranian Azeri Turkish Rett syndrome patients,Neurology Asia,2023 01 23.
9. Neda Jabbarpour , Hassan Saei , Mohammad hossein Jabbrpoor bonyadi , Morteza Bonyadi,Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract,Ophthalmic Genetics,2022 06 20.
10. Asghari Sarfaraz A, Jabbarpour N, Bonyadi M, Khalaj ,& Kondory M.,Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder.,J Neurogenet.,17.06.2024.