Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis

By Beccari T.   Bibi L.   Ricci R.   Antuzzi D.   Burgalossi A.   Costanzi E.   Orlacchio A.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 8, 2003-01 ,pp. : 819-820

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Myogenesis in Wilms Tumors Is Associated with Mutations of the WT1 Gene and Activation of Bcl-2 and the Wnt Signaling Pathway

By Fukuzawa Ryuji  

Pediatric and Developmental Pathology, Vol. 7, Iss. 2, 2004-04 ,pp. : 125-137

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Myogenesis in Wilms’ tumor is associated with mutations of the WT1 gene and activation of Bcl-2 and the Wnt signaling pathway

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Pediatric and Developmental Pathology, Vol. 7, Iss. 5, 2004-11 ,pp. : 549-549

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Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease

By Özcelik Cemil   Bit-Avragim Nana   Panek Anna   Gaio Ursula   Geier Christian   Lange Peter   Dietz Rainer   Posch Maximilian   Perrot Andreas   Stiller Brigitte  

Pediatric Cardiology, Vol. 27, Iss. 6, 2006-12 ,pp. : 695-698

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Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings

By Wurm Donald   Hänsgen Andrea   Kim Yoo-Jin   Lindinger Angelika   Baghai Ali   Gortner Ludwig  

European Journal of Pediatrics, Vol. 166, Iss. 4, 2007-04 ,pp. : 377-378

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