1. A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report. (10th January 2023) Authors: Bitarafan, Fatemeh; Razmara, Ehsan; Jafarinia, Ehsan; Almadani, Navid; Garshasbi, Masoud Journal: European journal of clinical investigation Issue: Volume 53:Number 4(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family. Issue 10 (22nd July 2020) Authors: Sepahvand, Afrooz; Razmara, Ehsan; Bitarafan, Fatemeh; Galehdari, Mohammad; Tavasoli, Ali Reza; Almadani, Navid; Garshasbi, Masoud Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 10(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. Issue 8 (4th July 2013) Authors: Püttmann, Lucia; Stehr, Henning; Garshasbi, Masoud; Hu, Hao; Kahrizi, Kimia; Lipkowitz, Bettina; Jamali, Payman; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans‐Hilger; Musante, Luciana; Kuss, Andreas W. Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients. (3rd August 2020) Authors: Farajollahi, Zahra; Razmara, Ehsan; Heidari, Erfan; Jafarinia, Ehsan; Garshasbi, Masoud Journal: Journal of gene medicine Issue: Volume 22:Number 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Aberrant expression of a five‐microRNA signature in breast carcinoma as a promising biomarker for diagnosis. Issue 2 (8th October 2019) Authors: Bitaraf, Amirreza; Babashah, Sadegh; Garshasbi, Masoud Journal: Journal of clinical laboratory analysis Issue: Volume 34:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. (2nd January 2020) Authors: Ashrafi, Mahmoud Reza; Amanat, Man; Garshasbi, Masoud; Kameli, Reyhaneh; Nilipour, Yalda; Heidari, Morteza; Rezaei, Zahra; Tavasoli, Ali Reza Journal: Expert review of neurotherapeutics Issue: Volume 20:Number 1(2020) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cohen syndrome diagnosis using whole genome arrays. Issue 2 (4th October 2010) Authors: Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, H-Erich; Meitinger, Thomas; Strom, Tim M; Hempel, Maja Journal: Journal of medical genetics Issue: Volume 48:Issue 2(2011) Page Start: 136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. (15th April 2021) Authors: Bitarafan, Fatemeh; Khodaeian, Mehrnoosh; Almadani, Navid; Kalhor, Alireza; Sardehaei, Elham Amjadi; Garshasbi, Masoud Journal: Fetal and pediatric pathology Issue: Volume 40:Number 2(2021) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Distribution of the most common types of HPV in Iranian women with and without cervical cancer. Issue 1 (2nd January 2021) Authors: Farahmand, Zohreh; Soleimanjahi, Hoorieh; Garshasbi, Masoud; Hasanzadeh, Malihe; Zafari, Ehsan Journal: Women & health Issue: Volume 61:Issue 1(2021) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Evaluation of DNMT1 gene expression profile and methylation of its promoter region in patients with ankylosing spondylitis. Issue 11 (November 2016) Authors: Aslani, Saeed; Mahmoudi, Mahdi; Garshasbi, Masoud; Jamshidi, Ahmad; Karami, Jafar; Nicknam, Mohammad Journal: Clinical rheumatology Issue: Volume 35:Issue 11(2016) Page Start: 2723 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗