Pediatrics
Service
VU University Amsterdam
Ámsterdam, HolandaPublications in collaboration with researchers from VU University Amsterdam (4)
2021
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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
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The natural history of classic galactosemia: Lessons from the GalNet registry
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2018
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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
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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