Repository of Research and Investigative Information
Isfahan University of Medical Sciences
Items where Author is "Shahani, T."
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Number of items: 2.
Article
(2020) Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome. Iranian Journal of Allergy Asthma and Immunology. pp. 193-199. ISSN 1735-1502
(2019) Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth. International Journal of Molecular and Cellular Medicine. pp. 169-178. ISSN 2251-9637