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Page 1
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Hashemian S, Eshraghi P, Dilaver N, Galehdari H, Shalbafan B, Vakili R, Ghaemi N, Ahangari N, Rezazadeh Varaghchi J, Zeighami J, Sedaghat A, Aminzadeh M, Hamid M, Saberi A, Ashtari F, Ghayoor Karimiani E, Shariati G. Hashemian S, et al. Among authors: ghayoor karimiani e. Iran J Child Neurol. 2019 Spring;13(2):155-162. Iran J Child Neurol. 2019. PMID: 31037088 Free PMC article.
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, Beiraghi Toosi M, Eslahi A, Ahangari N, Yassini SM, Hassanbeigi A, Rasti A, Kalantar SM, Maroofian R. Dehghani M, et al. Among authors: ghayoor karimiani e. Public Health Genomics. 2017;20(3):188-193. doi: 10.1159/000477560. Epub 2017 Jul 19. Public Health Genomics. 2017. PMID: 28719906
Hereditary thrombophilia genetic variants in recurrent pregnancy loss.
Ahangari N, Doosti M, Mousavifar N, Attaran M, Shahrokhzadeh S, Memarpour S, Ghayoor Karimiani E. Ahangari N, et al. Among authors: ghayoor karimiani e. Arch Gynecol Obstet. 2019 Sep;300(3):777-782. doi: 10.1007/s00404-019-05224-7. Epub 2019 Jul 17. Arch Gynecol Obstet. 2019. PMID: 31317253
Chloride Channel Mutations Leading to Congenital Myotonia.
Nik A, Ahangari N, Najarzadeh Torbati P, Boostani R, Ghayoor Karimiani E. Nik A, et al. Among authors: ghayoor karimiani e. Cureus. 2022 Dec 17;14(12):e32649. doi: 10.7759/cureus.32649. eCollection 2022 Dec. Cureus. 2022. PMID: 36540316 Free PMC article.
Brown-Vialetto-Van Laere syndrome.
Imannezhad S, Ghayoor Karimiani E, Sezavar M, Khademi GR, Naseri M, Ashrafzadeh F. Imannezhad S, et al. Among authors: ghayoor karimiani e. Iran J Child Neurol. 2024 Spring;18(2):141-146. doi: 10.22037/ijcn.v18i2.37314. Epub 2024 Mar 12. Iran J Child Neurol. 2024. PMID: 38617395 Free PMC article.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Among authors: ghayoor karimiani e. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
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