A novel variant in the DSE gene leads to Ehlers–Danlos musculocontractural type 2 in a Pakistani family I Ullah, M Aamir, M Ilyas, A Ahmed, M Jelani, W Ullah, M Abbas, M Ishfaq, ... Congenital Anomalies 61 (5), 177-182, 2021 | 4 | 2021 |
Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family W Ullah, M Ilyas, M Tariq, M Imdad, I Ullah, S Efthymiou, M Faheem, ... International Journal of Developmental Neuroscience 83 (4), 368-373, 2023 | | 2023 |