Publicaciones en las que colabora con URKO AGUIRRE LARRAKOETXEA (3)
2023
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Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value
Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179
2015
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study
European Journal of Human Genetics, Vol. 23, Núm. 4, pp. 438-444
2014
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Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation
Neuromuscular Disorders, Vol. 24, Núm. 1, pp. 56-62