Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients (Q28274147)

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Michela Barbaro

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Tatjana Djureinovic

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Paula Maguire

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Lena Forsberg

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Johan Staaf

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Ann Charlotte Thuresson

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Ake Borg

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Gunilla Malm

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Britt Marie Anderlid

European Journal of Human Genetics

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language of work or name

English

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publication date

February 2007

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published in

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volume

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issue

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page(s)

143-9

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cites work

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NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

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