Paulien Terhal
5PUBLICATIONS
88CO-AUTHORS
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Publications (5)
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|Sep 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.Hyoungjun Ham, Huie Jing, Ian T Lamborn
|Oct 22, 2022
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Nuno Maia, Nekane Ibarluzea, Mala Misra-Isrie
|Apr 23, 2018
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.Maartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal
|Feb 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Leonie A Menke, Thatjana Gardeitchik, Peter Hammond
|Nov 14, 2017
Further delineation of the GDF6 related multiple synostoses syndrome.Paulien A Terhal, Nienke E Verbeek, Nine Knoers
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Frequent Collaborators
1 joint publications
Leonie A Menke
1 joint publications
Jianling Ji
1 joint publications
Stefano Paolacci
1 joint publications
Bing Xiao
1 joint publications
Hyoungjun Ham
1 joint publications
Huie Jing
1 joint publications
Ian T Lamborn
1 joint publications
Megan M Kober
1 joint publications
Alexey Koval
1 joint publications
D Eric Anderson
