Rosario Domingo-Jiménez
Hospital Universitario Virgen de la Arrixaca
46 papers found
Refreshing results…
iPSC ‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation
Download from onlinelibrary.wiley.comCelia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
Download from doi.orgBrain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Download from onlinelibrary.wiley.comCelia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant
Download from link.springer.comUrinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients
Download from www.nature.comMiastenia congénita y defecto congénito de la glucosilación por mutaciones en el gen DPAGT1
Download from doi.orgEpilepsia ausencia infantil. Pronóstico a largo plazo
Download from doi.orgSíndrome Schinzel-Giedion: nueva mutación en SETBP1
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