Marjan Chapi

Marjan Chapi

Shahid Beheshti University of Medical Sciences - Tehran / Iran
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 5075482
دانشگاه علوم پزشکی و خدمات بهداشتي، درماني شهيد بهشتی
person_outline Marjan Chapi's MOST POPULAR ARTICLES
1-) COL18A1 is a candidate eye iridocorneal angle-closure gene in humans F Suri, S Yazdani, M Chapi, I Safari, P Rasooli, N Daftarian, ... Human molecular genetics 27 (21), 3772-3786, 2018 312018
2-) Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy M Chapi, H Sabbaghi, F Suri, E Alehabib, S Rahimi-Aliabadi, F Jamali, ... Ophthalmic Genetics 40 (3), 259-266, 2019 122019
3-) Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genesH Darvish, LJ Azcona, A Tafakhori, R Mesias, A Ahmadifard, E Sanchez, ...Scientific reports 10 (1), 968, 2020132020
4-) A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndromeJ Jamshidi, S Abdollahi, H Ghaedi, E Alehabib, A Tafakhori, S Alinaghi, ...European Journal of Medical Genetics 60 (11), 578-582, 2017122017
5-) Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorderF Mattioli, H Darvish, SA Paracha, A Tafakhori, SG Firouzabadi, M Chapi, ...NPJ Genomic Medicine 6 (1), 94, 2021112021