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Human mutation

Showing results (1511-1520 of 5,734) with videos related to

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Human Mutation|March 21, 2007
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)Philip A Chan, Sekhar Duraisamy, Peter J Miller, et al.
Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.
Human Mutation|September 5, 2006
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experimentsMarianne Stef, Delphine Simon, Ingrid Burgelin, et al.
Human Mutation|September 20, 2006
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findingsIris Ahronowitz, Winnie Xin, Rosemary Kiely, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
Human Mutation|December 30, 2006
RPGR mutation analysis and disease: an updateXinhua Shu, Graeme C Black, Jacqueline M Rice, et al.
Human Mutation|August 7, 2007
Rapid identification of disease-causing mutations using copy number analysis within linkage intervalsFatih Bayrakli, Kaya Bilguvar, Christopher E Mason, et al.
Human Mutation|August 9, 2007
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephalyClaude Bendavid, Christèle Dubourg, Laurent Pasquier, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Pageof 574

Showing results (1511-1520 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|March 21, 2007
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)Philip A Chan, Sekhar Duraisamy, Peter J Miller, et al.
Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.
Human Mutation|September 5, 2006
Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experimentsMarianne Stef, Delphine Simon, Ingrid Burgelin, et al.
Human Mutation|September 20, 2006
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findingsIris Ahronowitz, Winnie Xin, Rosemary Kiely, et al.
Human Mutation|December 13, 2006
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesisCatherine Dodé, Corinne Fouveaut, Geert Mortier, et al.
Human Mutation|December 23, 2006
Italian Rett database and biobankKatia Sampieri, Ilaria Meloni, Elisa Scala, et al.
Human Mutation|December 30, 2006
RPGR mutation analysis and disease: an updateXinhua Shu, Graeme C Black, Jacqueline M Rice, et al.
Human Mutation|August 7, 2007
Rapid identification of disease-causing mutations using copy number analysis within linkage intervalsFatih Bayrakli, Kaya Bilguvar, Christopher E Mason, et al.
Human Mutation|August 9, 2007
MLPA screening reveals novel subtelomeric rearrangements in holoprosencephalyClaude Bendavid, Christèle Dubourg, Laurent Pasquier, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Pageof 574