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American Journal of Human Genetics|July 1, 1995
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsG Nijbroek, S Sood, I McIntosh, et al.American Journal of Epidemiology|April 1, 1995
Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defectsS J Hwang, T H Beaty, S R Panny, et al.Annual Review of Medicine|January 1, 1986
DNA analysis in genetic disordersC A Francomano, H H KazazianGenomics|December 28, 1999
Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression patternT Ben-Yosef, C A FrancomanoGenomics|February 13, 2001
Characterization of a human gene encoding nucleosomal binding protein NSBP1L M King, C A FrancomanoAmerican Journal of Medical Genetics|April 1, 1988
Achondroplasia is not caused by mutation in the gene for type II collagenC A Francomano, R E PyeritzNature Genetics|September 1, 1993
A type X collagen mutation causes Schmid metaphyseal chondrodysplasiaM L Warman, M Abbott, S S Apte, et al.American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.American Journal of Human Genetics|August 27, 1998
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosomeD J Wilkin, J K Szabo, R Cameron, et al.Nature Genetics|July 1, 1995
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaG A Bellus, I McIntosh, E A Smith, et al.Pageof 17