Pediatría
Servizo
The Arctic University of Norway
Tromsø, NoruegaPublicacións en colaboración con investigadores/as de The Arctic University of Norway (3)
2020
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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025
2015
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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
American Journal of Human Genetics, Vol. 97, Núm. 6, pp. 790-800