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Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, Youssefian L, Samavat A, Touati A, Fallah MS, Vahidnezhad H, Karimipoor M, Azadmehr S, Raeisi M, Bandehi Sarhadi A, Zafarghandi Motlagh F, Jamali M, Zeinali Z, Abiri M, Zeinali S; Additional individual contributors. Shirzadeh T, et al. Among authors: abiri m. J Inherit Metab Dis. 2018 Nov;41(6):1159-1167. doi: 10.1007/s10545-018-0228-6. Epub 2018 Aug 29. J Inherit Metab Dis. 2018. PMID: 30159852
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: abiri m. J Invest Dermatol. 2017 Mar;137(3):678-685. doi: 10.1016/j.jid.2016.11.012. Epub 2016 Nov 21. J Invest Dermatol. 2017. PMID: 27884779 Free article.
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: abiri m. J Invest Dermatol. 2017 Mar;137(3):660-669. doi: 10.1016/j.jid.2016.10.023. Epub 2016 Oct 27. J Invest Dermatol. 2017. PMID: 27899325 Free article.
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, Barzegar M, Aghazadeh N, Mahmoudi H, Norouz-Zadeh S, Hamid M, Zahabiyon M, Bagherian H, Zeinali S, Fortina P, Uitto J. Vahidnezhad H, et al. Among authors: abiri m. J Invest Dermatol. 2017 Dec;137(12):2649-2652. doi: 10.1016/j.jid.2017.07.830. Epub 2017 Aug 19. J Invest Dermatol. 2017. PMID: 28830826 Free article. No abstract available.
60 results