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Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar SyndromeCAMPEAU, Philippe M; KIM, Jaeseung C; RHEAD, William J et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 282-289, issn 0002-9297, 8 p.Article

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Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B₁₂) absorption in vivo. CommentaryQIANCHUAN HE; MADSEN, Mette; DE LA CHAPELLE, Albert et al.Blood. 2005, Vol 106, Num 4, issn 0006-4971, 1146, 1447-1453 [8 p.]Article

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Late-onset thrombocytic microangiopathy caused by cblC disease: Association with a factor H mutationGUIGONIS, Vincent; FREMEAUX-BACCHI, Véronique; GIRAUDIER, Stéphane et al.American journal of kidney diseases. 2005, Vol 45, Num 3, pp 588-595, issn 0272-6386, 8 p.Article

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