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Human mutation

Showing results (691-700 of 6,544) with videos related to

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Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Mutation|February 1, 2011
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromesSalah Azzi, Virginie Steunou, Alexandra Rousseau, et al.
Human Mutation|February 11, 2011
Describing structural changes by extending HGVS sequence variation nomenclaturePeter E M Taschner, Johan T den Dunnen
Human Mutation|February 11, 2011
A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a familyPål Møller, Neal Clark, Lovise Mæhle
Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
Human Mutation|February 24, 2011
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfectaKatarina Lindahl, Aileen M Barnes, Nadja Fratzl-Zelman, et al.
Human Mutation|November 3, 2010
Expanded carrier screening in the Ashkenazi Jewish populationJohn Mitchell
Human Mutation|October 30, 2010
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypesHaifa Hichri, John Rendu, Nicole Monnier, et al.
Pageof 655

Showing results (691-700 of 6,544) with videos related to

Sort By:
Pageof 655
Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Mutation|February 1, 2011
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromesSalah Azzi, Virginie Steunou, Alexandra Rousseau, et al.
Human Mutation|February 11, 2011
Describing structural changes by extending HGVS sequence variation nomenclaturePeter E M Taschner, Johan T den Dunnen
Human Mutation|February 11, 2011
A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a familyPål Møller, Neal Clark, Lovise Mæhle
Human Mutation|February 11, 2011
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis ComplexMarianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, et al.
Human Mutation|February 1, 2011
MLL2 mutation spectrum in 45 patients with Kabuki syndromeAimée D C Paulussen, Alexander P A Stegmann, Marinus J Blok, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
Human Mutation|February 24, 2011
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfectaKatarina Lindahl, Aileen M Barnes, Nadja Fratzl-Zelman, et al.
Human Mutation|November 3, 2010
Expanded carrier screening in the Ashkenazi Jewish populationJohn Mitchell
Human Mutation|October 30, 2010
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypesHaifa Hichri, John Rendu, Nicole Monnier, et al.
Pageof 655