Itxaso
Marti Carrera
Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas
Madrid, EspañaPublications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (4)
2023
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
2022
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
2021
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2020
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
Scientific Reports, Vol. 10, Núm. 1