Items where Author is "Shadmehri, A. A."

Article

(2023) A Homozygous Nonsense Variant in <i>UVSSA</i> Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran. Advanced Biomedical Research. p. 6. ISSN 2277-9175

(2022) Clinical Evaluation Followed by Molecular Diagnosis in a Multiplex Pedigree of Angelman Syndrome: A Case Report. Journal of Sciences, Islamic Republic of Iran. pp. 305-309. ISSN 10161104 (ISSN)

(2020) A pathogenic variant in the transforming growth factor beta I ( TGFBI ) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. Iranian Journal of Basic Medical Sciences. pp. 1020-1027. ISSN 2008-3866

(2019) Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation. JOURNAL OF CELLULAR BIOCHEMISTRY. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)