Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
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Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
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Published in eLife (30.05.2015)
Published in eLife (30.05.2015)
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