PEDIATRIA KLINIKOA ETA GAIXOTASUN ARRAROAK
Universitat de Barcelona
Barcelona, EspañaUniversitat de Barcelona-ko ikertzaileekin lankidetzan egindako argitalpenak (6)
2021
2020
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Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)
Stem Cell Research, Vol. 49
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Update of the Spanish registry of haemoglobinopathies in children and adults
Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103
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
2017
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2005
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A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease
Neurology, Vol. 64, Núm. 9, pp. 1578-1585