Howard, Caoimhe
27  results:
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4

Biochemical testing for inborn errors of metabolism: experi..:

Dunne, Esme ; O'Reilly, Daniel ; Murphy, Claire A....
European Journal of Pediatrics.  181 (2022)  10 - p. 3725-3732 , 2022
 
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7

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F ; Mozer-Glassberg, Yael ; Landau, Yuval E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.015.  , 2023
 
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9

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes ..:

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.  , 2016
 
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11

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes ..:

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 , Shield , J P H , Hargreaves , I P , Monavari , A A , Knerr , I , McCarthy , P , Morris , A A M , Thorburn , D R , Prokisch , H , Clayton , P E , 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 . https://doi.org/10.1136/jmedgenet-2015-103576.  , 2016
 
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