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J L Knight

Showing results (81-90 of 108) with videos related to

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Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Leukemia|June 7, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
Journal of Medical Genetics|June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantF D Hannes, A J Sharp, H C Mefford, et al.
Leukemia|July 19, 2019
Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Pageof 11

Showing results (81-90 of 108) with videos related to

Sort By:
Pageof 11
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Leukemia|June 7, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
Journal of Medical Genetics|June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantF D Hannes, A J Sharp, H C Mefford, et al.
Leukemia|July 19, 2019
Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Nature Genetics|August 15, 2006
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeAndrew J Sharp, Sierra Hansen, Rebecca R Selzer, et al.
Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Pageof 11