Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure
Al Alawi, Intisar, Powell, Laura, Rice, Sarah J, Al Riyami, Mohammed S, Al-Riyami, Marwa, Al Salmi, Issa, Sayer, John A
Published in Frontiers in genetics (30.11.2021)
Published in Frontiers in genetics (30.11.2021)
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Journal Article
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
Olinger, Eric, Alawi, Intisar Al, Al Riyami, Mohammed S., Salmi, Isa Al, Molinari, Elisa, Faqeih, Eissa Ali, Al‐Hamed, Mohamed H., Barroso‐Gil, Miguel, Powell, Laura, Al‐Hussaini, Abdulrahman A., Rahim, Khawla A., Almontashiri, Naif A. M., Miles, Colin, Shril, Shirlee, Hildebrandt, Friedhelm, Consortium, Genomics England Research, Wilson, Ian J., Sayer, John A.
Published in Human mutation (01.10.2021)
Published in Human mutation (01.10.2021)
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Whole exome sequencing reveals concurrent mutations accounting for a combined phenotype of karyomegalic interstitial nephritis and an autosomal recessive polycystic kidney disease in an Omani child: A case report
Al Alawi, Intisar, AlShehhi, Maryam, Al Riyami, Mohammed S, Al Kalbani, Naifain, Al Hosni, Aliya, Al Mimani, Ashwaq, Al Salmi, Issa, Sayer, John A.
Published in Oman medical journal (2023)
Published in Oman medical journal (2023)
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