PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Universitari de Girona Dr. Josep Trueta
Girona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitari de Girona Dr. Josep Trueta (5)
2022
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Lung Ultrasound Scores Progress Differently in Extreme and Very Preterm Infants after Birth: A Multicentre Prospective Study
Neonatology, Vol. 119, Núm. 5, pp. 558-566
2021
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