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Springer Publishing Company

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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

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Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

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A missense mutation in the transcription factor Foxo3a causes teratomas and oocyte abnormalities in mice

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A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia

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