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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. 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: ghaffari sr. Mol Cytogenet. 2012 Jan 29;5(1):9. doi: 10.1186/1755-8166-5-9. Mol Cytogenet. 2012. PMID: 22283845 Free PMC article.
Histological Evaluation of Products of Conception, Who Benefits from It?
Soltanghoraee H, Mohazzab A, Soltani A, Ansaripour S, Tavakoli M, Rafati M, Zarnani AH, Ghaffari SR. Soltanghoraee H, et al. Among authors: ghaffari sr. Fetal Pediatr Pathol. 2023 Feb;42(1):30-43. doi: 10.1080/15513815.2022.2053916. Epub 2022 Mar 24. Fetal Pediatr Pathol. 2023. PMID: 35324418
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: ghaffari sr. Ophthalmic Genet. 2022 Apr;43(2):262-267. doi: 10.1080/13816810.2021.2002915. Epub 2021 Nov 18. Ophthalmic Genet. 2022. PMID: 34791963
43 results