Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Instituto de Investigación Sanitaria Gregorio Marañón
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Investigación Sanitaria Gregorio Marañón (13)
2024
2022
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Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203
2021
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Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings
Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543
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Exploring the biological role of postzygotic and germinal de novo mutations in ASD
Scientific Reports, Vol. 11, Núm. 1
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
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Psychiatric comorbidities in Asperger syndrome are related with polygenic overlap and differ from other Autism subtypes
Translational Psychiatry, Vol. 10, Núm. 1
2017
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
PLoS ONE, Vol. 12, Núm. 8
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
2014
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Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain
Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113