Laura
Hernández Hernández
Chercheuse dans le période 2011-2017
Publications (15) Publications de Laura Hernández Hernández
2021
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Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase
Frontiers in Medicine, Vol. 8
2018
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Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
Neurology, Vol. 91, Núm. 22, pp. e2078-e2088
2017
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DNM1 encephalopathy
Neurology, Vol. 89, Núm. 4, pp. 385-394
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Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy
Molecular Syndromology, Vol. 9, Núm. 1, pp. 38-44
2016
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Analysis of FOXP3 gene in children with allergy and autoimmune diseases
Allergologia et Immunopathologia, Vol. 44, Núm. 1, pp. 32-40
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 511-522
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Retinoic acid modulates PTGDR promoter activity
Journal of Investigational Allergology and Clinical Immunology, Vol. 26, Núm. 4, pp. 249-255
2015
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De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Nature Genetics, Vol. 47, Núm. 4, pp. 393-399
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
EBioMedicine, Vol. 2, Núm. 9, pp. 1063-1070
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Genome-wide association studies (GWAS) and their importance in asthma
Allergologia et Immunopathologia, Vol. 43, Núm. 6, pp. 601-608
2014
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Genome-wide expression profiling of B lymphocytes reveals IL4R increase in allergic asthma
Journal of Allergy and Clinical Immunology, Vol. 134, Núm. 4, pp. 972-975
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Implications of cytokine genes in allergic asthma
Allergologia et Immunopathologia, Vol. 42, Núm. 6, pp. 603-608
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The prostaglandin D2 receptor (PTGDR) gene in asthma and allergic diseases
Allergologia et Immunopathologia, Vol. 42, Núm. 1, pp. 64-68
2012
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Genetic association study in nasal polyposis
Journal of Investigational Allergology and Clinical Immunology, Vol. 22, Núm. 5, pp. 331-340
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Tryptase: Genetic and functional considerations
Allergologia et Immunopathologia, Vol. 40, Núm. 6, pp. 385-389