Pediatría, Inmunología, Obstetricia y Ginecología, Nutrición y Bromatología, Psiquiatría e Historia de la Ciencia
Saila
Radboud University Nijmegen Medical Centre
Nimega, HolandaRadboud University Nijmegen Medical Centre-ko ikertzaileekin lankidetzan egindako argitalpenak (2)
2018
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease