BLANCA
GENER QUEROL
VU University Medical Center
Ámsterdam, HolandaVU University Medical Center-ko ikertzaileekin lankidetzan egindako argitalpenak (4)
2015
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312
2009
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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Nature Genetics, Vol. 41, Núm. 7, pp. 829-832
2007
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Clinical and molecular phenotype of Aicardi-Goutières syndrome
American Journal of Human Genetics, Vol. 81, Núm. 4, pp. 713-725
2006
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The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance: A descriptive study
Pharmacoepidemiology and Drug Safety, Vol. 15, Núm. 9, pp. 675-682