Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Universidade da Coruña
La Coruña, EspañaPublicacións en colaboración con investigadores/as de Universidade da Coruña (19)
2023
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306
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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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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Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene
Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989
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LIPG endothelial lipase and breast cancer risk by subtypes
Scientific Reports, Vol. 11, Núm. 1
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The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study
European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379
2018
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V232D mutation in patients with cystic fibrosis Not so rare, not so mild
Medicine (United States), Vol. 97, Núm. 28
2016
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Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico
Journal of the Neurological Sciences, Vol. 362, pp. 321-325
2015
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Herramientas bioinformáticas para la investigación en cáncer colorrectal
Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 515-532
2014
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"New turns from old STaRs": Enhancing the capabilities of forensic short tandem repeat analysis
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3173-3187
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Global population variability in Qiagen Investigator HDplex STRs
Forensic Science International: Genetics, Vol. 8, Núm. 1, pp. 36-43
2013
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Development of a novel forensic STR multiplex for ancestry analysis and extended identity testing
Electrophoresis, Vol. 34, Núm. 8, pp. 1151-1162
2011
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An update of in Silico tools for the prediction of pathogenesis in Missense variants
Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198
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Synthesis, structure, and biological activity of des-side Chain analogues of 1α,25-Dihydroxyvitamin D3 with substituents at C18
ChemMedChem, Vol. 6, Núm. 5, pp. 788-793
2008
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Papilomatosis oral
Revista Clinica Espanola, Vol. 208, Núm. 6, pp. 305-306
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Y chromosome microsatellite genetic variation in two Native American populations from Argentina: Population stratification and mutation data
Forensic Science International: Genetics, Vol. 2, Núm. 4, pp. 274-280
2007
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Testing for genetic structure in different urban Argentinian populations
Forensic Science International, Vol. 165, Núm. 1, pp. 35-40
2002
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Ectopic adrenocorticotropic hormone production by a noncatecholamine secreting pheochromocytoma
Journal of Urology, Vol. 167, Núm. 6, pp. 2514-2515
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New method to measure minisatellite variant repeat variation in population genetic studies
American Journal of Human Biology, Vol. 14, Núm. 4, pp. 421-428