Publicaciones en colaboración con investigadores/as de Children's Hospital of Eastern Ontario (2)

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

2009

  1. SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    Epilepsia, Vol. 50, Núm. 7, pp. 1670-1678