Mahmoud Fassad

Mahmoud Fassad

Alexandria University - Alexandria / Egypt
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 93020
جامعة الإسكندرية
person_outline Mahmoud Fassad's MOST POPULAR ARTICLES
1-) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...Nature communications 8 (1), 1-15, 20171222017
2-) Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversusMR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P le Borgne, ...The American Journal of Human Genetics 103 (6), 984-994, 2018812018
3-) High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsA Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ...Thorax 73 (2), 157-166, 2018612018
4-) Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesiaA Shoemark, B Rubbo, M Legendre, MR Fassad, EG Haarman, S Best, ...European Respiratory Journal 58 (2), 2021762021
5-) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaS Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ...Thorax 74 (2), 203-205, 2019722019