Search Results - "Binomar, Hiba"

Primate-specific ZNF808 is essential for pancreatic development in humans by De Franco, Elisa, Owens, Nick D. L., Montaser, Hossam, Wakeling, Matthew N., Saarimäki-Vire, Jonna, Triantou, Athina, Ibrahim, Hazem, Balboa, Diego, Caswell, Richard C., Jennings, Rachel E., Kvist, Jouni A., Johnson, Matthew B., Muralidharan, Sachin, Ellard, Sian, Wright, Caroline F., Maddirevula, Sateesh, Alkuraya, Fowzan S., Hanley, Neil A., Flanagan, Sarah E., Otonkoski, Timo, Hattersley, Andrew T., Imbeault, Michael

“…Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report…”
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Large-scale genomic investigation of pediatric cholestasis reveals a novel hepatorenal ciliopathy caused by PSKH1 mutations by Maddirevula, Sateesh, Shagrani, Mohammad, Ji, Ae-Ri, Horne, Christopher R., Young, Samuel N., Mather, Lucy J., Alqahtani, Mashael, McKerlie, Colin, Wood, Geoffrey, Potter, Paul K., Abdulwahab, Firdous, AlSheddi, Tarfa, van der Woerd, Wendy L., van Gassen, Koen L.I., AlBogami, Dalal, Kumar, Kishwer, Muhammad Akhtar, Ali Syed, Binomar, Hiba, Almanea, Hadeel, Faqeih, Eissa, Fuchs, Sabine A., Scott, John W., Murphy, James M., Alkuraya, Fowzan S.

“…Pediatric cholestasis is the phenotypic expression of clinically and genetically heterogeneous disorders of bile acid synthesis and flow. Although a growing…”
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