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Human Genome Variation|October 7, 2017
Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutationsForough Sadeghipour, Mitra Basiratnia, Ali Derakhshan, et al.
Molecular Genetics & Genomic Medicine|February 22, 2026
Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common MutationShayan Shakeri, Sanaz Mohammadi, Forough Sadeghipour, et al.
BMC Medical Genetics|July 22, 2018
A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case reportHossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, et al.
Frontiers in Neurology|September 26, 2019
A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal ImpairmentParham Habibzadeh, Soroor Inaloo, Mohammad Silawi, et al.
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