CÉLULAS MADRE Y TERAPIA CELULAR
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (4)
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
2018
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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2013
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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study
The Lancet Neurology, Vol. 12, Núm. 12, pp. 1159-1169
2010
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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
Human Mutation, Vol. 31, Núm. 2, pp. 113-126