Unidad Predepartamental de Enfermería
Departamento
Elena
Domínguez Garrido
Publicaciones en las que colabora con Elena Domínguez Garrido (10)
2022
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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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Severity of COVID-19 attributable to obesity according to BMI and CUN-BAE
Semergen, Vol. 48, Núm. 8, pp. 6
2020
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A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data
Clinical Case Reports, Vol. 8, Núm. 12, pp. 3184-3188
2019
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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11
2018
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Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
BMC Medical Genetics, Vol. 19, Núm. 1
2016
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A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer
SpringerPlus, Vol. 5, Núm. 1
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Digital droplet PCR on disk
Lab on a Chip, Vol. 16, Núm. 1, pp. 208-216
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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
BMC Medical Genetics, Vol. 17, Núm. 1
2015
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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Human Genome Variation, Vol. 2, Núm. 1