Browsing by Author
Siddiqi, Saima
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
| 2022 | Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease | Ravindran, Ethiraj; Ullah, Noor; Mani, Shyamala; Chew, Elaine Guo Yan; Tandiono, Moses; Foo, Jia Nee; Khor, Chiea Chuen; Kaindl, Angela M.; Siddiqi, Saima |
| 2017 | Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family | Ajmal, Muhammad; Mir, Asif; Wahid, Sughra; Khor, Chiea Chuen; Foo, Jia Nee; Siddiqi, Saima; Kauser, Mehran; Malik, Salman Akbar; Nasir, Muhammad |
| 2019 | A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family | Kausar, Mehran; Chew, Elaine Guo Yan; Ullah, Hazrat; Anees, Mariam; Khor, Chiea Chuen; Foo, Jia Nee; Makitie, Outi; Siddiqi, Saima |
| 2023 | Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family | Zaka, Ayesha; Yousaf, Maha; Shahzad, Shaheen; Rao, Hadi Zahid; Foo, Jia Nee; Siddiqi, Saima |