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Nature Genetics|March 31, 2000
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosisM P Bulman, K Kusumi, T M Frayling, et al.
American Journal of Human Genetics|December 31, 2005
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeD B Sparrow, G Chapman, M A Wouters, et al.
Epilepsia|June 25, 2026
Beyond congenital anomalies, the impact of sodium valproate exposure in utero on long-term health and well-being: A contribution from the ConcePTION projectP A Wells, J L Richardson, D Astill, et al.
Nature Genetics|November 16, 2002
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndromeJ D Carpten, C M Robbins, A Villablanca, et al.
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