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American Journal of Medical Genetics|August 1, 1993
Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridizationM E Percy, T G Dearie, E W Jabs, et al.Proceedings of the National Academy of Sciences of the United States of America|April 1, 1993
Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humansP Gregor, R H Reeves, E W Jabs, et al.American Journal of Medical Genetics|June 28, 2001
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3D N Schweitzer, J M Graham, R S Lachman, et al.Genomics|September 1, 1991
Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this regionE W Jabs, C A Coss, S J Hayflick, et al.American Journal of Human Genetics|May 20, 1999
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafnessM J Kovach, J P Lin, S Boyadjiev, et al.FEBS Letters|March 8, 1993
A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPsC K Surratt, A M Persico, X D Yang, et al.Nature Genetics|August 1, 1996
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndromeK A Przylepa, W Paznekas, M Zhang, et al.Neuromuscular Disorders : NMD|September 1, 1994
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9L H Yamaoka, C A Westbrook, M C Speer, et al.Nature Genetics|January 1, 1997
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndromeT D Howard, W A Paznekas, E D Green, et al.Journal of Medical Genetics|January 18, 2006
High throughput SNP and expression analyses of candidate genes for non-syndromic oral cleftsJ W Park, J Cai, I McIntosh, et al.Pageof 11