Pediatría
Servizo
Centre Hospitalier Universitaire de Liège
Lieja, BélgicaPublicacións en colaboración con investigadores/as de Centre Hospitalier Universitaire de Liège (2)
2020
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
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