PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Universitario Nuestra Señora de Candelaria
Santa Cruz de Tenerife, EspañaPublicaciones en colaboración con investigadores/as de 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