1. A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non‐syndromic congenital heart disease. Issue 4 (22nd December 2019) Authors: Kalayinia, Samira; Maleki, Majid; Mahdavi, Mohammad; Mahdieh, Nejat Journal: Journal of clinical laboratory analysis Issue: Volume 34:Issue 4(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male. Issue 10 (18th June 2020) Authors: Dalili, Setilla; Rabbani, Bahareh; Hassanzadeh Rad, Afagh; Koohmanaee, Shaahin; Mahdieh, Nejat Journal: Clinical case reports Issue: Volume 8:Issue 10(2020) Page Start: 1947 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A systematic review of LDLR, PCSK9, and APOB variants in Asia. (July 2020) Authors: Mahdieh, Nejat; Heshmatzad, Katayoun; Rabbani, Bahareh Journal: Atherosclerosis Issue: Volume 305(2020) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1. (13th December 2021) Authors: Kalayinia, Samira; Talebi, Saeed; Miryounesi, Mohammad; Sarkhail, Peymaneh; Mahdieh, Nejat Other Names: Shahab Muhammad Academic Editor. Journal: International journal of endocrinology Issue: Volume 2021(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation. (19th May 2017) Authors: Soveizi, Mahdieh; Rabbani, Bahareh; Rezaei, Yousef; Saedi, Sedigheh; Najafi, Nasim; Maleki, Majid; Mahdieh, Nejat Journal: Annals of human genetics Issue: Volume 81:Number 4(2017:Jul.) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Beta thalassemia in 31, 734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East. Issue 6 (November 2016) Authors: Mahdieh, Nejat; Rabbani, Bahareh Journal: Blood reviews Issue: Volume 30:Issue 6(2016:Nov.) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses. (February 2020) Authors: Rabbani, Bahareh; Bakhshandeh, Mohammad Kazem; Navaeifar, Mohammad Reza; Abbaskhanian, Ali; Soveizi, Mahdieh; Geravandpoor, Shahpour; Mahdieh, Nejat Journal: Journal of clinical neuroscience Issue: Volume 72(2020) Page Start: 342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Construction, expression, and activity of a novel immunotoxin comprising a humanized antiepidermal growth factor receptor scFv and modified Pseudomonas aeruginosa exotoxin A. Issue 3 (March 2017) Authors: Akbari, Bahman; Farajnia, Safar; Zarghami, Nosratollah; Mahdieh, Nejat; Rahmati, Mohammad; Khosroshahi, Shiva A.; Barzegar, Abolfazl; Rahbarnia, Leila Journal: Anti-cancer drugs Issue: Volume 28:Issue 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease. Issue 7 (22nd May 2019) Authors: Kalayinia, Samira; Maleki, Majid; Rokni‐Zadeh, Hassan; Changi‐Ashtiani, Majid; Ahangar, Hassan; Biglari, Alireza; Shahani, Tina; Mahdieh, Nejat Journal: Journal of clinical laboratory analysis Issue: Volume 33:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic homozygosity in a diverse population: An experience of long QT syndrome. (1st October 2020) Authors: Mahdieh, Nejat; Khorgami, Mohammadrafi; Soveizi, Mahdieh; Seyed Aliakbar, Saranaz; Dalili, Mohammad; Rabbani, Bahareh Journal: International journal of cardiology Issue: Volume 316(2020) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗