Associated Papers
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
Sequencing and functional assessment of hPXR (NR1I2) variants in intrahepatic cholestasis of pregnancy.
Owen BM et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2008
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Narchi H et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0
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