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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.Human Mutation|February 22, 2002
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.Human Mutation|February 22, 2002
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromasLan Kluwe, Reinhard E Friedrich, Bruce Korf, et al.Human Mutation|January 6, 2006
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicingJessie Auclair, Marie Pierre Busine, Claudine Navarro, et al.Human Mutation|January 6, 2006
Different genetic pathways in the development of periocular sebaceous gland carcinomas in presumptive Muir-Torre syndrome patientsM Goldberg, C Rummelt, S Foja, et al.Pageof 577