Tehran University of Medical Sciences

Science Communicator Platform

Faculty Members have conducted research related to the Novel Co-Occurrence of Slc26a4 and Kctd7 Variants in a Pediatric Patient With Syndromic Hearing Loss and Myoclonic Epilepsy
Ali Rashidi Nezhad
Ali Rashidi Nezhad

Assistant Professor of Medical Genetics

Maternal, Fetal and Neonatal Research Center

Tehran University of Medical Sciences

All Documents
1. Identification of a Putative Founder Effect Involving the Hace1:C.1396C>T Variant in Two Iranian Families and Review of Reported Cases, Neurological Sciences (2026)
2. Clinical and Genetic Delineation of Autosomal Recessive and Dominant Actl6b-Related Developmental Brain Disorders, Genetics in Medicine (2025)
3. Clinical and Genetic Delineation of Autosomal Recessive and Dominant Actl6b-Related Developmental Brain Disorders, Genetics in Medicine (2025)
4. Expanding Insights Into Kctd7-Related Drug-Resistant Epilepsy: Three Novel Mutations in a Cohort of Iranian Pediatric Patients, Developmental Neuroscience (2025)
5. Diagnostic and Prognostic Role of Soft Ultrasound Markers in Prenatal Detection and Assessment of Foetal Abnormalities, Przeglad Menopauzalny (2024)
6. Towards Solving the Genetic Diagnosis Odyssey in Iranian Patients With Congenital Anomalies, European Journal of Human Genetics (2024)
7. Activation of the Dna Damage Response Pathway in the Infected Gastric Tissue With Helicobacter Pylori: A Case-Control Study, Journal of Infection in Developing Countries (2023)
8. Diagnostic Yield of Prenatal Exome Sequencing in the Genetic Screening of Fetuses With Brain Anomalies Detected by Mri and Ultrasonography: A Systematic Review and Meta-Analysis, BJOG: An International Journal of Obstetrics and Gynaecology (2023)
9. The Challenges in the Interpretation of Genetic Variants Detected by Genomics Techniques in Patients With Congenital Anomalies, Journal of Clinical Laboratory Analysis (2023)
10. Cep104 Gene May Involve in the Pathogenesis of a New Developmental Disorder Other Than Joubert Syndrome, Molecular Biology Reports (2022)
11. Exploring the Genetic Etiology of Drug-Resistant Epilepsy: Incorporation of Exome Sequencing Into Practice, Acta Neurologica Belgica (2022)
12. A Novel Case Report of Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy From Iran, International Medical Case Reports Journal (2019)
13. Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor, International Journal of Molecular and Cellular Medicine (2019)
14. Association of Sp-B Gene 9306 A/G Polymorphism (Rs7316) and Risk of Rds, Journal of Maternal-Fetal and Neonatal Medicine (2018)
15. Effects of Cannabinoid Receptor Type 2 in Respiratory Syncytial Virus Infection in Human Subjects and Mice, Virulence (2018)
16. Evaluation of the Potential Association Between Cannabinoid Receptor 2 Gene Q63r Polymorphism (Rs35761398) and Risk of Rds Development in Preterm Neonates, Iranian Journal of Pediatrics (2018)
17. Newborn Screening Using Trec/Krec Assay for Severe T and B Cell Lymphopenia in Iran, Scandinavian Journal of Immunology (2018)
18. Association of Sp-C Gene Codon 186 Polymorphism (Rs1124) and Risk of Rds, Journal of Maternal-Fetal and Neonatal Medicine (2017)
19. Knocking Down the Drd2 by Shrna Expressing Plasmids in the Nucleus Accumbens Prevented the Disrupting Effect of Apomorphine on Prepulse Inhibition in Rat, Journal of Sciences# Islamic Republic of Iran (2015)