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Cytogenetics and Cell Genetics|February 15, 2001
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)W Kress, H Collmann, M Büsse, et al.European Journal of Human Genetics : EJHG|September 14, 1999
Allelic heterogeneity of alkaptonuria in Central EuropeC R Müller, A Fregin, S Srsen, et al.Human Molecular Genetics|December 14, 2001
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasisN Tilgen, F Zorzato, B Halliger-Keller, et al.Neurology|December 29, 2005
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth, H Zhou, L Hartley, et al.Neurology|July 24, 2002
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with coresH Jungbluth, C R Müller, B Halliger-Keller, et al.Pageof 1