• Cyclin dependent kinase like 5 (CDKL5) mutation screening in Rett Syndrome and related clinical disorders 

      White, Rose
      Published 2007
      Rett Syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively females, with an incidence of 1 in 8,000 by 15 yrs of age. The disorder encompasses a wide spectrum of clinical phenotypes. Up ...
      Open Access
      Thesis
    • MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C 

      Thabet, Khaled; Asimakopoulos, Anastasia; Shojaei, Maryam; Romero-Gomez, Manuel; Mangia, Alessandra; Irving, William L.; Berg, Thomas; Dore, Gregory J.; Grønbæk, Henning; Sheridan, David; Abate, Maria; Bugianes, Elisabetta; Weltman, Martin; Mollison, Lindsay; Cheng, Wendy; Riordan, Stephen; Fischer, Janett; Spengler, Ulrich; Nattermann, Jacob; Wahid, Ahmed; Rojas, Angela; White, Rose; Douglas, Mark; McLeod, Duncan; Powell, Elizabeth; Liddle, Christopher; van der Poorten, David; George, Jacob; Eslam, Mohammed; International Liver Disease Genetics Consortium
      Published 2016-01-01
      Open Access
      Article