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Human Mutation|January 1, 1995
Applications of heteroduplex analysis for mutation detection in disease genesD Glavac, M DeanHuman Mutation|January 1, 1995
Analysis of mutational changes at the HLA locus in single human spermM M Huang, H A Erlich, M F Goodman, et al.Human Mutation|January 1, 1995
Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratoriesM J Schwarz, G M Malone, A Haworth, et al.Human Mutation|January 1, 1995
French CF family genotype analysis shows that the R297Q mutation is a rare polymorphismI Dorval, P Jézéquel, B Chauvel, et al.Human Mutation|January 1, 1995
Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IVP H Johnson, A J Richards, J C Lloyd, et al.Human Mutation|January 1, 1993
Screening for TP53 mutations in osteosarcomas using constant denaturant gel electrophoresis (CDGE)B Smith-Sørensen, M C Gebhardt, P Kloen, et al.Human Mutation|February 22, 2002
The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell linesBelén Bornstein, Jose Antonio Mas, Miguel Angel Fernández-Moreno, et al.Human Mutation|February 22, 2002
Structure, genomic DNA typing, and kinetic characterization of the D allozyme of placental alkaline phosphatase (PLAP/ALPP)Charlotte Wennberg, Alexey Kozlenkov, Sonia Di Mauro, et al.Human Mutation|February 22, 2002
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1DBenigna von Brederlow, Hanno Bolz, Andreas Janecke, et al.Human Mutation|February 22, 2002
Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese populationUi-Soon Khoo, Kelvin Y K Chan, Annie N Y Cheung, et al.Pageof 574