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American Journal of Human Genetics|March 1, 1996
Somatic mosaicism in a patient with neurofibromatosis type 1S D Colman, S A Rasmussen, V T Ho, et al.Journal of Medical Genetics|July 1, 1997
Four frameshift mutations in neurofibromatosis type 1 caused by small insertionsS D Colman, C R Abernathy, V T Ho, et al.Journal of Medical Genetics|June 27, 1998
Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1S A Rasmussen, S D Colman, V T Ho, et al.Human Mutation|January 1, 1994
Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the geneC R Abernathy, S D Colman, B G Kousseff, et al.Genes, Chromosomes & Cancer|June 22, 2000
Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1S A Rasmussen, J Overman, S A Thomson, et al.Nature Genetics|September 1, 1995
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 geneS D Colman, C A Williams, M R WallaceHuman Molecular Genetics|October 1, 1993
Characterization of a single base-pair deletion in neurofibromatosis type 1S D Colman, F S Collins, M R WallaceHuman Mutation|January 1, 1997
NF1 mutation analysis using a combined heteroduplex/SSCP approachC R Abernathy, S A Rasmussen, H J Stalker, et al.Human Genetics|September 10, 1999
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16S A Thomson, S A Rasmussen, J Zhang, et al.Human Mutation|April 17, 1999
Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. OnlineS Krkljus, C R Abernathy, J S Johnson, et al.Pageof 29