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| Title : Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children - Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| Author(s) : Mestek-Boukhibar L , Clement E , Jones WD , Drury S , Ocaka L , Gagunashvili A , Le Quesne Stabej P , Bacchelli C , Jani N , Rahman S , Jenkins L , Hurst JA , Bitner-Glindzicz M , Peters M , Beales PL , Williams HJ |
| Ref : Journal of Medical Genetics , 55 :721 , 2018 |
| Abstract : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| ESTHER : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| PubMedSearch : Mestek-Boukhibar_2018_J.Med.Genet_55_721 |
| PubMedID: 30049826 |
| Title : A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity - Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| Author(s) : Jimenez-Mallebrera C , Torelli S , Feng L , Kim J , Godfrey C , Clement E , Mein R , Abbs S , Brown SC , Campbell KP , Kroger S , Talim B , Topaloglu H , Quinlivan R , Roper H , Childs AM , Kinali M , Sewry CA , Muntoni F |
| Ref : Brain Pathology , 19 :596 , 2009 |
| Abstract : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| ESTHER : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedID: 18691338 |