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John Wiley & Sons Inc

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New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome

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Oxford University Press

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Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course

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John Wiley & Sons Inc

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By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

By Twigg Stephen R.F.   Babbs Christian   van den Elzen Marijke E.P.   Goriely Anne   Taylor Stephen   McGowan Simon J.   Giannoulatou Eleni   Lonie Lorne   Ragoussis Jiannis   Akha Elham Sadighi   Knight Samantha J.L.   Zechi-Ceide Roseli M.   Hoogeboom Jeannette A.M.   Pober Barbara R.   Toriello Helga V.   Wall Steven A.   Rita Passos-Bueno M.   Brunner Han G.   Mathijssen Irene M.J.   Wilkie Andrew O.M.  

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