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Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Hum Mutat. 2022 Apr;43(4):e1-e23. doi: 10.1002/humu.24328. Epub 2022 Feb 3.
Hum Mutat. 2022.
PMID: 35005816
Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Chegini M, Eslami M, Motavaf M, Memarsadeghi O, Hoseini A, Torab E, Hoseininasab F, Amiri H, Ramandi S, Mostofinezhad N, Keivani F, Ghaffari SR, Rafati M.
Chegini M, et al. Among authors: mostofinezhad n.
Arch Dermatol Res. 2023 Dec 7;316(1):24. doi: 10.1007/s00403-023-02775-3.
Arch Dermatol Res. 2023.
PMID: 38060040
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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: mostofinezhad n.
Ophthalmic Genet. 2022 Apr;43(2):262-267. doi: 10.1080/13816810.2021.2002915. Epub 2021 Nov 18.
Ophthalmic Genet. 2022.
PMID: 34791963
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