Publications
Export 3 results:
Author Title [ Year
] Filters: Author is Liaqat, Khurram and Keyword is Mutation [Clear All Filters]
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet 64, 153-160 (2019).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19, 122 (2018).
