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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ... The American Journal of Human Genetics 71 (5), 1033-1043, 2002 | 795 | 2002 |
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p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ... The American Journal of Human Genetics 69 (3), 481-492, 2001 | 420 | 2001 |
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