Browsing by Author Siddiqi, Saima

Showing results 1 to 2 of 2
Issue DateTitleAuthor(s)
2017Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani familyAjmal, Muhammad; Mir, Asif; Wahid, Sughra; Khor, Chiea Chuen; Foo, Jia Nee; Siddiqi, Saima; Kauser, Mehran; Malik, Salman Akbar; Nasir, Muhammad
2019A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani familyKausar, Mehran; Chew, Elaine Guo Yan; Ullah, Hazrat; Anees, Mariam; Khor, Chiea Chuen; Foo, Jia Nee; Makitie, Outi; Siddiqi, Saima