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Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, Alaei MR, Salehpour S, Amirkashani D, Setoodeh A, Sarkhail P, Badv RS, Aminzadeh M, Shiva S, Eshraghi P, Moravej H, Hashemipour M, Rostampour N, Hamidieh AA, Shamsian BS, Shams S, Zamanfar D, Ebrahimi A, Otadi A, Tara SZ, Barati Z, Fakhri L, Hoseini A, Amiri H, Ramandi S, Mostofinezhad N, Kani ZP, Mohammadyari E, Khosravi M, Saadati M, Hoseininasab F, Khorram Khorshid HR, Modaberisaber Y. Ghaffari SR, et al. Among authors: hoseini a. Hum Mutat. 2022 Apr;43(4):e1-e23. doi: 10.1002/humu.24328. Epub 2022 Feb 3. Hum Mutat. 2022. PMID: 35005816
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes.
Rafati M, Seyyedaboutorabi E, Ghadirzadeh MR, Heshmati Y, Adibi H, Keihanidoust Z, Eshraghian MR, Javadi GR, Dastan J, Mosavi-Jarrahi A, Hoseini A, Purhoseini M, Ghaffari SR. Rafati M, et al. Among authors: hoseini a. Mol Cytogenet. 2012 Jan 29;5(1):9. doi: 10.1186/1755-8166-5-9. Mol Cytogenet. 2012. PMID: 22283845 Free PMC article.
Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA).
Khorami Sarvestani S, Rafati M, Soltanghoraee H, Hoseini A, Soltani A, Jalilian K, Ghaffari SR. Khorami Sarvestani S, et al. Among authors: hoseini a. Avicenna J Med Biotechnol. 2021 Jul-Sep;13(3):143-148. doi: 10.18502/ajmb.v13i3.6363. Avicenna J Med Biotechnol. 2021. PMID: 34484644 Free PMC article.
Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.
Rafati M, Mohamadhashem F, Jalilian K, Hoseininasab F, Fakhri L, Hoseini A, Amiri H, Barati Z, Darzi Ramandi S, Mostofinezhad N, Mahmoudi AH, Ghaffari SR. Rafati M, et al. Among authors: hoseini a. Ophthalmic Genet. 2022 Apr;43(2):262-267. doi: 10.1080/13816810.2021.2002915. Epub 2021 Nov 18. Ophthalmic Genet. 2022. PMID: 34791963
Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique.
Rafati M, Ravanbod S, Hoseini A, Rassoulzadegan M, Jazebi M, Enayat MS, Ala FA, Ghaffari SR. Rafati M, et al. Among authors: hoseini a. Haemophilia. 2011 Jul;17(4):705-7. doi: 10.1111/j.1365-2516.2010.02476.x. Epub 2011 Mar 4. Haemophilia. 2011. PMID: 21371190 No abstract available.
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