Publicacións en colaboración con investigadores/as de VU University Amsterdam (4)

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

2019

  1. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Origins and genetic legacies of the Caribbean Taino

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 115, Núm. 10, pp. 2341-2346

1999

  1. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty

    Journal of Clinical Endocrinology and Metabolism, Vol. 84, Núm. 3, pp. 1136-1140