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Human mutation

Showing results (1531-1540 of 5,734) with videos related to

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Human Mutation|July 27, 2006
National and ethnic mutation databases: recording populations' genographyGeorge P Patrinos
Human Mutation|June 21, 2006
A quality assessment survey of SNP genotyping laboratoriesPäivi Lahermo, Ulrika Liljedahl, Grethe Alnaes, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Human Mutation|June 21, 2006
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assemblyFelix B Müller, Wolfgang Küster, Kerstin Wodecki, et al.
Human Mutation|June 21, 2006
Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 geneEtienne Patin, Christine Harmant, Ken K Kidd, et al.
Human Mutation|June 21, 2006
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.
Human Mutation|June 21, 2006
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institutionBenoît Guillet, Thierry Lambert, Roseline d'Oiron, et al.
Human Mutation|June 23, 2006
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterizationAna B Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, et al.
Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.
Pageof 574

Showing results (1531-1540 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|July 27, 2006
National and ethnic mutation databases: recording populations' genographyGeorge P Patrinos
Human Mutation|June 21, 2006
A quality assessment survey of SNP genotyping laboratoriesPäivi Lahermo, Ulrika Liljedahl, Grethe Alnaes, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Human Mutation|June 21, 2006
A new large CFTR rearrangement illustrates the importance of searching for complex allelesF Niel, M Legendre, T Bienvenu, et al.
Human Mutation|June 21, 2006
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assemblyFelix B Müller, Wolfgang Küster, Kerstin Wodecki, et al.
Human Mutation|June 21, 2006
Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 geneEtienne Patin, Christine Harmant, Ken K Kidd, et al.
Human Mutation|June 21, 2006
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari populationMahmoud F El-Said, Ramin Badii, M S Bessisso, et al.
Human Mutation|June 21, 2006
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institutionBenoît Guillet, Thierry Lambert, Roseline d'Oiron, et al.
Human Mutation|June 23, 2006
Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterizationAna B Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, et al.
Human Mutation|September 27, 2006
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicingMichael Krawczak, Nick S T Thomas, Bernd Hundrieser, et al.
Pageof 574