Neurociencias
Vall d'Hebron Institut de Recerca
Barcelona, EspañaVall d'Hebron Institut de Recerca-ko ikertzaileekin lankidetzan egindako argitalpenak (6)
2022
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Development of Lung Function in Preterm Infants During the First Two Years of Life
Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245
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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
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
2020
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Brain, Vol. 143, Núm. 9, pp. 2696-2708
2019
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Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study
Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846
2018
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Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
Muscle and Nerve, Vol. 58, Núm. 6, pp. 812-817