Isfahan University of Medical Sciences

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Faculty Members have conducted research related to the Molecular and Phenotypical Findings of a Novel De Novo Syngap1 Gene Variant in an 11-Year-Old Iranian Boy With Intellectual Disability
Majid Hosseinzadeh
Majid Hosseinzadeh

Assistant Professor of Genetics

Department of Genetics and Molecular Biology, School of Medicine

Isfahan University of Medical Sciences

Related Documents
1. Genetic Analysis of Mecp2 Gene in Iranian Patients With Rett Syndrome, Iranian Journal of Child Neurology (2019)
All Documents
1. Evaluation of Common Col2a1 Gene Variants in Iranian Patients Suspected With Stickler Syndrome Type I, Journal of Research in Medical Sciences (2025)
2. Bacterial Infections and Outcomes of Inpatients With Covid-19 in the Intensive Care Unit During the Delta-Dominant Phase: The Worst Wave of Pandemic in Iran, Frontiers in Public Health (2024)
3. Failure of Ceftazidime/Avibactam Experimental Therapy in the Treatment of Klebsiella Pneumoniae St11 Co-Producing Ndm-1 and Oxa-48 Carbapenemases Infection, European Journal of Clinical Microbiology and Infectious Diseases (2024)
4. First Case of New Delhi Metallo Β-Lactamase-1 (Ndm-1)-Producing Burkholderia Cepacia Complex in Iran, Heliyon (2024)
5. Outbreak of Colistin and Carbapenem-Resistant Klebsiella Pneumoniae St16 Co-Producing Ndm-1 and Oxa-48 Isolates in an Iranian Hospital, BMC Microbiology (2024)
6. Causative Variants Linked With Limb Girdle Muscular Dystrophy in an Iranian Population: 6 Novel Variants, Molecular Genetics and Genomic Medicine (2023)
7. Causative Variants Linked With Limb Girdle Muscular Dystrophy in an Iranian Population: 6 Novel Variants, Molecular Genetics and Genomic Medicine (2023)
8. Secondary Bacterial Infection Caused by St16 Ndm-1 and Oxa-48-Producing Colistin and Carbapenem-Resistant Klebsiella Pneumoniae Treated With Tigecycline in a Pregnant Woman With Covid-19, Journal of Pharmaceutical Policy and Practice (2023)
9. Association of Clinical Features With Spike Glycoprotein Mutations in Iranian Covid-19 Patients, Journal of Clinical Medicine (2022)
10. Dysregulation of Rna Interference Components in Covid-19 Patients, BMC Research Notes (2021)
11. Genetic Analysis of Mecp2 Gene in Iranian Patients With Rett Syndrome, Iranian Journal of Child Neurology (2019)
12. Genetic Analysis of Mecp2 Gene in Iranian Patients With Rett Syndrome, Iranian Journal of Child Neurology (2019)
13. Il-7Ra Association and Genotype-Dependent Severity and Response to Ifn-Β Therapy in Multiple Sclerosis, Acta Medica Iranica (2019)
14. A Novel Homozygous Dph1 Mutation Causes Intellectual Disability and Unique Craniofacial Features, Journal of Human Genetics (2018)
15. A Novel Homozygous Dph1 Mutation Causes Intellectual Disability and Unique Craniofacial Features, Journal of Human Genetics (2018)
16. Factors Influencing Sperm Retrieval Following Testicular Sperm Extraction in Nonobstructive Azoospermia Patients, Clinical and Experimental Reproductive Medicine (2017)
17. Factors Influencing Sperm Retrieval Following Testicular Sperm Extraction in Nonobstructive Azoospermia Patients, Clinical and Experimental Reproductive Medicine (2017)
18. Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents, Cytogenetic and Genome Research (2016)
19. Reciprocal 22Q11.2 Deletion and Duplication in Siblings With Karyotypically Normal Parents, Cytogenetic and Genome Research (2016)
20. A New Compound Heterozygous Mutation in Gjb2 Causes Nonsyndromic Hearing Loss in a Consanguineous Iranian Family, International Journal of Pediatric Otorhinolaryngology (2015)
21. Genotype and Phenotype Correlations in Iranian Patients With Hyperinsulinaemic Hypoglycaemia, BMC Research Notes (2015)
22. Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran, International Journal of Pediatric Otorhinolaryngology (2015)
23. Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran, International Journal of Pediatric Otorhinolaryngology (2015)
24. Significant Association Between Nonsyndromic Cleft Lip With or Without Cleft Palate and Irf6rs2235371 Polymorphism in Iranian Familiar Population, Molecular Biology (2015)
25. Significant Association Between Nonsyndromic Cleft Lip With or Without Cleft Palate and Irf6rs2235371 Polymorphism in Iranian Familiar Population, Molekuliarnaia biologiia (2015)