| IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred families R Gul, S Firasat, M Hussain, K Afshan, D Nawaz Congenit. Anom 60, 1-2, 2019 | 6 | 2019 |
| SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families (11) (PDF) SLC4A11 … S Firasat, Dur-E-Shawar, WA Khan, U Sughra, Nousheen, H Kaul, S Naz, ... Molecular Biology Reports, 2021 | 5 | 2021 |
| Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing R Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, M Hussain, ... Frontiers in Genetics 14, 1128850, 2023 | 4 | 2023 |
| Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease R Gul, S Firasat, M Hussain, M Tufail, W Ahmad, K Afshan Genetika 53 (3), 1017-1029, 2021 | 2 | 2021 |
| Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing R Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, AP Gjesing, ... Frontiers in Genetics 14, 1254909, 2023 | | 2023 |
| Molecular Analysis of Lysosomal Storage Disorders in Pakistani Population R Gul Quaid I Azam university Islamabad, 2023 | | 2023 |
