Showing results (1-10 of 25) with videos related to
Sort By:
Pageof 3
Journal of Medical Case Reports|July 26, 2022
Niemann-Pick type A disease with new mutation: a case reportFatemeh Aghamahdi, Matineh Nirouei, Shahram SavadJournal of Pediatric Endocrinology & Metabolism : JPEM|March 5, 2016
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndromeShahab Noorian, Shahram Savad, Davood Shah MohammadiAACE Clinical Case Reports|June 7, 2021
A Family With Novel X-Linked Recessive Homozygous Mutation in ANOS1 (c.628_629 del, p.1210fs∗) in Kallmann Syndrome Associated Unilateral Ptosis: Case Report and Literature ReviewShahab Noorian, Shahram Savad, Armin Khavandegar, et al.The Annals of Otology, Rhinology, and Laryngology|April 3, 2023
A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of LiteraturesHadith Rastad, Parham Samimisedeh, Shahram Savad, et al.Cell Biology International|February 4, 2015
Personalized evolutionary hypothesis in genomics and auxiliary lymph node through diverse subtelomeric signal profileParvin Mehdipour, Firoozeh Javan, Shahram Savad, et al.Clinical Case Reports|February 21, 2025
Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1-4 of GH1 Gene: A Case ReportShahab Noorian, Hedieh Soltani, Fatemeh Aghamahdi, et al.The International Journal of Neuroscience|April 30, 2020
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatalAzam Pourahmadiyan, Morteza Heidari, Hossein Shojaaldini Ardakani, et al.Basic and Clinical Neuroscience|February 14, 2022
The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based MutationShahab Noorian, Sepideh Hamzehlou, Ali Rabbani, et al.Journal of Pediatric Genetics|December 1, 2021
Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting GrowthShahab Noorian, Nami Mohammadian Khonsari, Shahram Savad, et al.Asian Pacific Journal of Cancer Prevention : APJCP|May 29, 2012
Expression analysis of MiR-21, MiR-205, and MiR-342 in breast cancer in IranShahram Savad, Parvin Mehdipour, Mohammad Miryounesi, et al.Pageof 3