Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome

por SALEHPOUR, Shadab, HASHEMI-GORJI, Feyzollah, SOLTANI, Ziba, GHAFOURI-FARD, Soudeh, MIRYOUNESI, Mohammad
Publicado 2017

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

por Abtahi, Rezvan, Karimzadeh, Parvaneh, Aryani, Omid, Akbarzadeh, Diba, Salehpour, Shadab, Rezayi, Alireza, Tonekaboni, Seyed Hassan, Emameh, Reza Zolfaghari, Houshmand, Massoud
Publicado 2022

Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients

por Sardarpour, Negar, Bagherian, Hamideh, Zafarghandi Motlagh, Fatemeh, Shirzadeh, Tina, Asnavandi, Sadaf, Younesikhah, Shahrzad, Salehpour, Shadab, Setoodeh, Aria, Alaei, Mohammad Reza, Zeinali, Sirous
Publicado 2023

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

por Eghbali, Maryam, Fatemi, Kiyana Sadat, Salehpour, Shadab, Abiri, Maryam, Saei, Hassan, Talebi, Saeed, Olyaei, Nasrin Alipour, Yassaee, Vahid Reza, Modarressi, Mohammad Hossein
Publicado 2021