(Q45970066)
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Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. (English)
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Nils Rademacher
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Melanie Hambrock
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Ute Fischer
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Bettina Moser
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Berten Ceulemans
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Wolfgang Lieb
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Rainer Boor
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Gabriele Gillessen-Kaesbach
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Charlotte Runge
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Georg Christoph Korenke
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Stefanie Spranger
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Franco Laccone
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Andreas Tzschach
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12 February 2011
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12
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2
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165-167
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