Rutaba Gul

Rutaba Gul

Quaid-i-Azam University Islamabad - Islamabad / Pakistan
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4927335
جامعہ قائداعظم
person_outline Rutaba Gul's MOST POPULAR ARTICLES
1-) 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, 202162021
2-) Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencingR Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, M Hussain, ...Frontiers in Genetics 14, 1128850, 202362023
3-) IDUA gene mutations in mucopolysaccharidosis type-1 patients from two Pakistani inbred familiesR Gul, S Firasat, M Hussain, K Afshan, D NawazCongenit. Anom 60, 126-127, 202062020
4-) Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher diseaseR Gul, S Firasat, M Hussain, M Tufail, W Ahmad, K AfshanGenetika 53 (3), 1017-1029, 202122021
5-) Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencingR Gul, S Firasat, M Schubert, A Ullah, E Peña, ACB Thuesen, AP Gjesing, ...Frontiers in Genetics 14, 1254909, 20232023