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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: ashrafzadeh f. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
Joubert syndrome in three children in a family: a case series.
Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, Moazen N, Mohammadpoor T, Karami R. Akhondian J, et al. Among authors: ashrafzadeh f. Iran J Child Neurol. 2013 Winter;7(1):39-42. Iran J Child Neurol. 2013. PMID: 24665289 Free PMC article.
Griscelli syndrome: a case report.
Mansouri Nejad SE, Yazdan Panah MJ, Tayyebi Meibodi N, Ashraf Zadeh F, Akhondian J, Beiraghi Toosi M, Eslamieh H. Mansouri Nejad SE, et al. Iran J Child Neurol. 2014 Fall;8(4):72-5. Iran J Child Neurol. 2014. PMID: 25657774 Free PMC article.
Epstein-barr virus encephalitis: a case report.
Hashemian S, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Hashemian S, et al. Among authors: ashrafzadeh f. Iran J Child Neurol. 2015 Winter;9(1):107-10. Iran J Child Neurol. 2015. PMID: 25767548 Free PMC article.
Angelman Syndrome: A Case Report.
Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi M, Hassanpour K. Ashrafzadeh F, et al. Iran J Child Neurol. 2016 Spring;10(2):86-9. Iran J Child Neurol. 2016. PMID: 27247589 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: ashrafzadeh f. Public Health Genomics. 2017;20(3):188-193. doi: 10.1159/000477560. Epub 2017 Jul 19. Public Health Genomics. 2017. PMID: 28719906
52 results