CLINICAL PEDIATRICS AND RARE DISEASES
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublications in collaboration with researchers from Hospital Universitario Nuestra Señora de Candelaria (6)
2022
2021
2020
2019
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2017
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1