Items where Author is "Chaleshtori, A. R. S."

Article

(2021) The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. Journal of Human Genetics. pp. 445-448. ISSN 1434-5161

(2020) The identification and stereochemistry analysis of a novel mutation p.(D367Tfs*61) in the CYP1B1 gene: A case report. Journal of Current Ophthalmology. pp. 114-118. ISSN 2452-2325

(2019) A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report. Journal of Current Ophthalmology. pp. 458-462. ISSN 2452-2325

(2016) A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. Journal of Human Genetics. pp. 177-179. ISSN 1434-5161