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27 April 2024 |
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Results 1 to 12 of 12 for query "Brunner, Han G. ". (0.00 sec.)
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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome | Beltrán-Valero de Bernabé, Daniel ; Currier, Sophie ; Steinbrecher, Alice ; Celli, Jacopo ; van Beusekom, Ellen ; van der Zwaag, Bert ; Kayserili, Hülya ; Merlini, Luciano ; Chitayat, David ; Dobyns, William B. ; Cormand, Bru ; Lehesjoki, Ana-Elina ; Cruces, Jesús ; Voit, Thomas ; Walsh, Christopher A. ; van Bokhoven, Hans ; Brunner, Han G. ; | |
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High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization | Veltman, Joris A. ; Schoenmakers, Eric F. P. M. ; Eussen, Bert H. ; Janssen, Irene ; Merkx, Gerard ; van Cleef, Brigitte ; van Ravenswaaij, Conny M. ; Brunner, Han G. ; Smeets, Dominique ; van Kessel, Ad Geurts ; | |
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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity | Tartaglia, Marco ; Kalidas, Kamini ; Shaw, Adam ; Song, Xiaoling ; Musat, Dan L. ; van der Burgt, Ineke ; Brunner, Han G. ; Bertola, Débora R. ; Crosby, Andrew ; Ion, Andra ; Kucherlapati, Raju S. ; Jeffery, Steve ; Patton, Michael A. ; Gelb, Bruce D. ; | |
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