Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mohammed S Al Riyami"'
Autor:
Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, John A. Sayer
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Variants in the GLIS family zinc finger protein 2 (GLIS2) are a rare cause of nephronophthisis-related ciliopathies (NPHP-RC). A reduction in urinary concentration and a progressive chronic tubulointerstitial nephropathy with corticomedullary cysts a
Externí odkaz:
https://doaj.org/article/5ea8894a3390408ebab0d658d0bea9d9
Autor:
Intisar Al Alawi, Maryam AlShehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer
Publikováno v:
Oman Medical Journal.
Autor:
Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
Publikováno v:
Hum Mutat
Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozy
Autor:
Miguel Barroso-Gil, John A. Sayer, Eric Olinger, Intisar Al Alawi, Mohammed S. Al Riyami, Issa Al Salmi, Laura Powell
Publikováno v:
F1000Research
Background: Whole exome sequencing (WES) is becoming part of routine clinical and diagnostic practice. In the investigation of inherited cystic kidney disease and renal ciliopathy syndromes, WES has been extensively applied in research studies as wel