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Human Mutation|February 12, 2005
MALDI-TOF MS and TaqMan assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET)Malgorzata Jaremko, Christina Justenhoven, Benny K Abraham, et al.Human Mutation|February 12, 2005
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann, Fabian Küpper, Christian Dornia, et al.Human Mutation|February 16, 2005
Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasiaSalma A Abdalla, Urszula Cymerman, Diane Rushlow, et al.Human Mutation|February 16, 2005
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patientsDorota Jurkiewicz, Ewa Popowska, Christiane Gläser, et al.Human Mutation|February 16, 2005
Genetic polymorphisms in the transforming growth factor beta-induced gene associated with BMIKyong Soo Park, Hyoung Doo Shin, Byung Lae Park, et al.Human Mutation|February 16, 2005
Two independent retrotransposon insertions at the same site within the coding region of BTKMary Ellen Conley, Julie D Partain, Shannon M Norland, et al.Human Mutation|February 17, 2005
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variationJustin Graf, Richard Hodgson, Angela van DaalHuman Mutation|February 20, 2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyL Karageorgos, P Harmatz, J Simon, et al.Human Mutation|February 20, 2004
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco Laccone, Ivonne Jünemann, Sharon Whatley, et al.Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.Pageof 577