Alston, Charlotte L ;
Howard, Caoimhe ;
Oláhová, Monika...
Alston , C L , Howard , C , Oláhová , M , Hardy , S A , He , L , Murray , P G , O'Sullivan , S , Doherty , G , Hamilton-Shield , J P , Hargreaves , I P , Monavari , A A , Knerr , I , McCarthy , P W , Morris , A A M , Thorburn , D R , Prokisch , H , Clayton , P , McFarland , R , Hughes , J , Crushell , E & Taylor , R W 2016 , ' A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype ' , Journal of Medical Genetics , vol. 53 , no. 9 , pp. 634-641 . https://doi.org/10.1136/jmedgenet-2015-103576.
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2016
