HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Pierre and Marie Curie University
París, FranciaPublicaciones en colaboración con investigadores/as de Pierre and Marie Curie University (6)
2021
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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
Neurology, Vol. 97, Núm. 6, pp. E577-E586
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
American Journal of Human Genetics, Vol. 108, Núm. 6, pp. 1138-1150
2020
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112
2016
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Estimation of the Relationship between External Biceps Brachii Deformation and Isometric Contraction Level Using Motion Capture Technique
XIV MEDITERRANEAN CONFERENCE ON MEDICAL AND BIOLOGICAL ENGINEERING AND COMPUTING 2016
2015
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Genome-wide significant association with seven novel multiple sclerosis risk loci
Journal of Medical Genetics, Vol. 52, Núm. 12, pp. 848-855