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Genomics|May 1, 1991
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) geneJ Zielenski, D Bozon, B Kerem, et al.Nature Genetics|April 1, 1993
The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTRC Li, M Ramjeesingh, E Reyes, et al.Genomics|January 1, 1995
Genomic organization of the human alpha-adducin gene and its alternately spliced isoformsB Lin, J Nasir, H McDonald, et al.Biochemical and Biophysical Research Communications|October 1, 1998
GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor geneA Grifa, A Totaro, J M Rommens, et al.Genomics|February 12, 1998
Amplification of CFTR exon 9 sequences to multiple locations in the human genomeR Rozmahel, H H Heng, A M Duncan, et al.Human Molecular Genetics|January 1, 1994
Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat [corrected]B Lin, J Nasir, H MacDonald, et al.Genomics|April 1, 1997
The XRCC2 DNA repair gene: identification of a positional candidateC E Tambini, A M George, J M Rommens, et al.Biochemical and Biophysical Research Communications|October 24, 1998
Cloning of a new gene (FB19) within HLA class I regionA Totaro, A Grifa, M Carella, et al.American Journal of Human Genetics|March 31, 2000
Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritanceH Ginzberg, J Shin, L Ellis, et al.Clinical Genetics|February 27, 2004
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDSO Mäkitie, L Ellis, P R Durie, et al.Pageof 7