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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
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Published in Nature genetics (01.10.1996)
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Published in Journal of medical genetics (01.01.2001)
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Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cm
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Published in Human genetics (01.05.2001)
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Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS
Hitchins, Megan P., Rickard, Sarah, Dhalla, Fatima, de Vries, Bert B.A., Winter, Robin, Pembrey, Marcus E., Malcolm, Sue
Published in American journal of medical genetics. Part A (01.03.2004)
Published in American journal of medical genetics. Part A (01.03.2004)
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