Servizo
Xenética
Publicacións (37) Publicacións nas que participase algún/ha investigador/a
2015
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A Genetically Vulnerable Myocardium May Predispose to Myocarditis
Journal of the American College of Cardiology
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An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders
Clinica Chimica Acta, Vol. 445, pp. 34-40
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Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types
Journal of the National Cancer Institute, Vol. 107, Núm. 12
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Autism Spectrum Disorders: Translating human deficits into mouse behavior
Neurobiology of Learning and Memory, Vol. 124, pp. 71-87
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Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: Comparisons and contrasts
International Journal of Developmental Disabilities, Vol. 61, Núm. 1, pp. 49-55
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BigBWA: Approaching the Burrows-Wheeler aligner to Big Data technologies
Bioinformatics, Vol. 31, Núm. 24, pp. 4003-4005
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Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
Cerebellum
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Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia
Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643
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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303
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Completion of a worldwide reference panel of samples for an ancestry informative Indel assay
Forensic Science International: Genetics, Vol. 17, pp. 75-80
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Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies
Scientific Reports, Vol. 5
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Diagnostic accuracy of sperm DNA degradation index (DDSi) as a potential noninvasive biomarker to identify men with varicocele-associated infertility
International Urology and Nephrology, Vol. 47, Núm. 9, pp. 1471-1477
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Differential role of the proteasome in the early and late phases of BDNF-induced facilitation of LTP
Journal of Neuroscience, Vol. 35, Núm. 8, pp. 3319-3329
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Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))
Seizure
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Exploration of SNP variants affecting hair colour prediction in Europeans
International Journal of Legal Medicine, Vol. 129, Núm. 5, pp. 963-975
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Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129
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Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant
Seizure, Vol. 25, pp. 65-67
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Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome
PLoS ONE, Vol. 10, Núm. 7
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Genetic analysis, in silico prediction, and family segregation in long QT syndrome
European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85
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Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series
International Journal of Legal Medicine, Vol. 129, Núm. 3, pp. 495-504