Asma Gul
6PUBLICATIONS
4CO-AUTHORS
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Publications (6)
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|May 13, 2023
Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.Shazia Khan, Muhammad Umair, Safdar Abbas
|May 26, 2021
An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.Ayesha Zaka, Shaheen Shahzad, Hadi Zahid Rao
|Dec 29, 2019
Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.Abida Akbar, Muneeba Bint-E-Farrakh, Andrew H Crosby
|Dec 20, 2019
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.Shazia Khan, Lettie E Rawlins, Gaurav V Harlalka
|Aug 25, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.Abida Akbar, Claire Prince, Chloe Payne
|Jun 08, 2019
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.Shazia Khan, Siying Lin, Gaurav V Harlalka
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