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Your search keyword '"Boogaard, Marie-Jose H. van den"' showing total 2 results
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2 results on '"Boogaard, Marie-Jose H. van den"'

1. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Author

Nabais Sá, M.J., Tekle, Geniver El, Brouwer, A.P.M. de, Sawyer, Sarah L., Gaudio, Daniela del, Parker, Michael J., Boogaard, Marie-Jose H. van den, Wiel, L.J.M. van de, Gilissen, C.F., Venselaar, H., Pfundt, R.P., Vissers, L.E.L.M., Theurillat, Jean-Philippe P., Vries, B.B.A. de, Nabais Sá, M.J., Tekle, Geniver El, Brouwer, A.P.M. de, Sawyer, Sarah L., Gaudio, Daniela del, Parker, Michael J., Boogaard, Marie-Jose H. van den, Wiel, L.J.M. van de, Gilissen, C.F., Venselaar, H., Pfundt, R.P., Vissers, L.E.L.M., Theurillat, Jean-Philippe P., and Vries, B.B.A. de

Abstract

Contains fulltext : 217324.pdf (Publisher’s version ) (Closed access)

Published
2020

2. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Author

Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, Boogaard, Marie-Jose´ H van den, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, and O'Connor, Emer

Published
2020
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