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Human mutation

Showing results (781-790 of 6,545) with videos related to

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Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Human Mutation|November 13, 2007
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decayGisela Nogales-Gadea, Juan Carlos Rubio, Israel Fernandez-Cadenas, et al.
Human Mutation|August 8, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French populationMickaël Guedj, Agnès Bourillon, Christophe Combadières, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Human Mutation|August 6, 2008
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significanceMaria Adelaide Caligo, Fabrizia Bonatti, Lucia Guidugli, et al.
Human Mutation|October 15, 2008
Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseBalaji S Srinivasan, Jaleh Doostzadeh, Farnaz Absalan, et al.
Human Mutation|September 19, 2008
Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searchesHans-Jürgen Bandelt, Antonio Salas, Robert W Taylor, et al.
Human Mutation|November 21, 2007
PIK3CA cancer mutations display gender and tissue specificity patternsSilvia Benvenuti, Milo Frattini, Sabrina Arena, et al.
Human Mutation|July 16, 2008
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motifNick M Makridakis, Lúcio Fábio Caldas Ferraz, Juergen K V Reichardt
Pageof 655

Showing results (781-790 of 6,545) with videos related to

Sort By:
Pageof 655
Human Mutation|November 13, 2007
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patientsMichela Guglieri, Francesca Magri, Maria Grazia D'Angelo, et al.
Human Mutation|November 13, 2007
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decayGisela Nogales-Gadea, Juan Carlos Rubio, Israel Fernandez-Cadenas, et al.
Human Mutation|August 8, 2008
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French populationMickaël Guedj, Agnès Bourillon, Christophe Combadières, et al.
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Human Mutation|August 12, 2008
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programsMaaike P G Vreeswijk, Jaennelle N Kraan, Heleen M van der Klift, et al.
Human Mutation|August 6, 2008
A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significanceMaria Adelaide Caligo, Fabrizia Bonatti, Lucia Guidugli, et al.
Human Mutation|October 15, 2008
Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson diseaseBalaji S Srinivasan, Jaleh Doostzadeh, Farnaz Absalan, et al.
Human Mutation|September 19, 2008
Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searchesHans-Jürgen Bandelt, Antonio Salas, Robert W Taylor, et al.
Human Mutation|November 21, 2007
PIK3CA cancer mutations display gender and tissue specificity patternsSilvia Benvenuti, Milo Frattini, Sabrina Arena, et al.
Human Mutation|July 16, 2008
Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motifNick M Makridakis, Lúcio Fábio Caldas Ferraz, Juergen K V Reichardt
Pageof 655