Showing 1 - 11 results of 11 for search 'Van Der Spek, P', query time: 0.04s
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1
Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis by Goos, J, Fenwick, A, Swagemakers, S, McGowan, S, Knight, S, Twigg, S, Hoogeboom, A, van Dooren, M, Magielsen, F, Wall, S, Mathijssen, I, Wilkie, A, van der Spek, P, van den Ouweland, A
Published 2016Journal article -
2
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth by Nieminen, P, Morgan, N, Fenwick, A, Parmanen, S, Veistinen, L, Mikkola, M, Van Der Spek, P, Giraud, A, Judd, L, Arte, S, Brueton, L, Wall, SA, Mathijssen, I, Maher, E, Wilkie, A, Kreiborg, S, Thesleff, I
Published 2011Journal article -
3
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. by Nieminen, P, Morgan, N, Fenwick, A, Parmanen, S, Veistinen, L, Mikkola, M, van der Spek, P, Giraud, A, Judd, L, Arte, S, Brueton, L, Wall, SA, Mathijssen, I, Maher, E, Wilkie, A, Kreiborg, S, Thesleff, I
Published 2011Journal article -
4
Host- and tissue-specific pathogenic traits of Staphylococcus aureus. by van Leeuwen, W, Melles, D, Alaidan, A, Al-Ahdal, M, Boelens, H, Snijders, S, Wertheim, H, van Duijkeren, E, Peeters, J, van der Spek, P, Gorkink, R, Simons, G, Verbrugh, H, van Belkum, A
Published 2005Journal article -
5
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis by Goos, J, Vogel, W, Mlcochova, H, Millard, C, Esfandiari, E, Selman, S, Calpena Corpas, E, Koelling, N, Carpenter, E, Swagemakers, S, van der Spek, P, Filtz, T, Schwabe, J, Iwaniec, U, Mathijssen, I, Leid, M, Twigg, S
Published 2019Journal article -
6
Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability by Twigg, S, Forecki, J, Goos, J, Richardson, I, Hoogeboom, A, van den Ouweland, A, Swagemakers, S, Lequin, M, Van Antwerp, D, McGowan, S, Westbury, I, Miller, K, Wall, S, van der Spek, P, Mathijssen, I, Pauws, E, Merzdorf, C, Wilkie, A
Published 2015Journal article -
7
Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia by Goos, J, Swagemakers, S, Twigg, S, van Dooren, M, Hoogeboom, A, Beetz, C, Günther, S, Magielsen, F, Ockeloen, C, Ramos-Arroyo, M, Pfundt, R, Yntema, H, van der Spek, P, Stanier, P, Wieczorek, D, Wilkie, A, van den Ouweland, A, Mathijssen, I, Hurst, J
Published 2017Journal article -
8
Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, O, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R
Published 2013Conference item -
9
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R, Twigg, SR
Published 2013Journal article -
10
Diagnostic value of exome and whole genome sequencing in craniosynostosis by Miller, K, Twigg, S, McGowan, S, Phipps, J, Fenwick, A, Johnson, D, Wall, S, Noons, P, Rees, K, Tidey, E, Craft, J, Taylor, J, Taylor, J, Goos, J, Swagemakers, S, Mathijssen, I, van der Spek, P, Lord, H, Lester, T, Abid, N, Cilliers, D, Hurst, J, Morton, J, Sweeney, E, Weber, A, Wilson, L, Wilkie, A
Published 2016Journal article -
11
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. by Sharma, V, Fenwick, A, Brockop, MS, McGowan, S, Goos, J, Hoogeboom, A, Brady, A, Jeelani, N, Lynch, SA, Mulliken, J, Murray, D, Phipps, J, Sweeney, E, Tomkins, SE, Wilson, L, Bennett, S, Cornall, R, Broxholme, J, Kanapin, A, 500 Whole-Genome Sequences (WGS500) Consortium, Johnson, D, Wall, SA, van der Spek, P, Mathijssen, I, Maxson, R
Published 2013Journal article