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Retrospective natural history of thymidine kinase 2 deficie..:
Garone, Caterina
;
Taylor, Robert W
;
Nascimento, Andrés
...
https://www.repository.cam.ac.uk/handle/1810/291828. , 2018
Link:
https://www.repository.cam.ac.uk/handle/1810/291828
RT Journal T1
Retrospective natural history of thymidine kinase 2 deficiency
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_291828&Exemplar=1&LAN=DE A1 Garone, Caterina A1 Taylor, Robert W A1 Nascimento, Andrés A1 Poulton, Joanna A1 Fratter, Carl A1 Domínguez-González, Cristina A1 Evans, Julie C A1 Loos, Mariana A1 Isohanni, Pirjo A1 Suomalainen, Anu A1 Ram, Dipak A1 Hughes, M Imelda A1 McFarland, Robert A1 Barca, Emanuele A1 Lopez Gomez, Carlos A1 Jayawant, Sandeep A1 Thomas, Neil D A1 Manzur, Adnan Y A1 Kleinsteuber, Karin A1 Martin, Miguel A A1 Kerr, Timothy A1 Gorman, Grainne S A1 Sommerville, Ewen W A1 Chinnery, Patrick F A1 Hofer, Monika A1 Karch, Christoph A1 Ralph, Jeffrey A1 Cámara, Yolanda A1 Madruga-Garrido, Marcos A1 Domínguez-Carral, Jana A1 Ortez, Carlos A1 Emperador, Sonia A1 Montoya, Julio A1 Chakrapani, Anupam A1 Kriger, Joshua F A1 Schoenaker, Robert A1 Levin, Bruce A1 Thompson, John LP A1 Long, Yuelin A1 Rahman, Shamima A1 Donati, Maria Alice A1 DiMauro, Salvatore A1 Hirano, Michio PB BMJ; http://dx.doi.org/10.1136/jmedgenet-2017-105012; J Med Genet YR 2018 K1 clinical genetics K1 metabolic disorders K1 muscle disease K1 neuromuscular disease K1 Adolescent K1 Adult K1 Age of Onset K1 Aged K1 Child K1 Preschool K1 Female K1 Genes K1 Recessive K1 Genetic Association Studies K1 Genetic Predisposition to Disease K1 Genetic Testing K1 Humans K1 Infant K1 Newborn K1 Male K1 Middle Aged K1 Mitochondrial Proteins K1 Muscle K1 Skeletal K1 Muscular Diseases K1 Mutation K1 Phenotype K1 Retrospective Studies K1 Survival Analysis K1 Thymidine Kinase K1 Young Adult JF https://www.repository.cam.ac.uk/handle/1810/291828 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/291828 DO https://www.repository.cam.ac.uk/handle/1810/291828 SF ELIB - SuUB Bremen
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