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                             5 results found
no title author magazine year volume issue page(s) type
1 Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation Hansen, Adam W.

2 1 p.
article
2 Inclusion of variants discovered from diverse populations improves polygenic risk score transferability Cavazos, Taylor B.

2 1 p.
article
3 Lessons learned from the eMERGE Network: balancing genomics in discovery and practice
2 1 p.
article
4 Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome Wakeling, Emma

2 1 p.
article
5 TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes Van De Weghe, Julie C.

2 1 p.
article
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 Koninklijke Bibliotheek - National Library of the Netherlands