Items where Author is "Khorshid, H. R. K."
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(2022) Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion). HUMAN MUTATION. E1-E23. ISSN 1059-7794 1098-1004 J9 - HUM MUTAT
(2019) Identification of PROS1 as a Novel Candidate Gene for Juvenile Retinitis Pigmentosa. International Journal of Molecular and Cellular Medicine. pp. 179-190. ISSN 2251-9637
(2019) MFSD8 gene mutations; evidence for phenotypic heterogeneity. Ophthalmic Genetics. pp. 141-145. ISSN 1381-6810