Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family

由 Zaka, Ayesha, Yousaf, Maha, Shahzad, Shaheen, Rao, Hadi Zahid, Foo, Jia Nee, Siddiqi, Saima
出版 2023

A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

由 Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
出版 2019

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

由 Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad
出版 2018

Case report: expanding the phenotype of ARHGEF17 mutations from increased intracranial aneurysm risk to a neurodevelopmental disease

由 Ravindran, Ethiraj, Ullah, Noor, Mani, Shyamala, Chew, Elaine Guo Yan, Tandiono, Moses, Foo, Jia Nee, Khor, Chiea Chuen, Kaindl, Angela M., Siddiqi, Saima
出版 2023