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Lisa G Shaffer

Showing results (61-70 of 215) with videos related to

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Prenatal Diagnosis|August 29, 2013
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literatureJonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, et al.
American Journal of Medical Genetics|May 7, 2002
Familial complex chromosomal rearrangement resulting in a recombinant chromosomeSue Ann Berend, Olaf A F Bodamer, Stuart K Shapira, et al.
Journal of Applied Genetics|October 26, 2024
DNA methylation dysregulation patterns in the 1p36 region instabilityJoanna Swierkowska-Janc, Michal Kabza, Malgorzata Rydzanicz, et al.
Human Molecular Genetics|September 10, 2002
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not CenpcAlka Saxena, Lee H Wong, Paul Kalitsis, et al.
Seminars in Pediatric Neurology|December 17, 2008
An instructive case of an 8-year-old boy with intellectual disabilityMyriam Srour, Bassam A Bejjani, Emily A Rorem, et al.
Prenatal Diagnosis|September 8, 2011
The 2010 Malcolm Ferguson-Smith Young Investigator AwardDiana W Bianchi, Lyn S Chitty, Jan Deprest, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delayTrilochan Sahoo, Aaron Theisen, Michael Marble, et al.
American Journal of Medical Genetics|April 27, 2002
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patientsYuan-Qing Wu, Bassem A Bejjani, Lap-Chee Tsui, et al.
Nature Genetics|December 4, 2001
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- miceClemencia Colmenares, Heidi A Heilstedt, Lisa G Shaffer, et al.
Human Genetics|July 19, 2006
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocationsMarzena Gajecka, Adam Pavlicek, Caron D Glotzbach, et al.
Pageof 22

Showing results (61-70 of 215) with videos related to

Sort By:
Pageof 22
Prenatal Diagnosis|August 29, 2013
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literatureJonathan L A Callaway, Lisa G Shaffer, Lyn S Chitty, et al.
American Journal of Medical Genetics|May 7, 2002
Familial complex chromosomal rearrangement resulting in a recombinant chromosomeSue Ann Berend, Olaf A F Bodamer, Stuart K Shapira, et al.
Journal of Applied Genetics|October 26, 2024
DNA methylation dysregulation patterns in the 1p36 region instabilityJoanna Swierkowska-Janc, Michal Kabza, Malgorzata Rydzanicz, et al.
Human Molecular Genetics|September 10, 2002
Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not CenpcAlka Saxena, Lee H Wong, Paul Kalitsis, et al.
Seminars in Pediatric Neurology|December 17, 2008
An instructive case of an 8-year-old boy with intellectual disabilityMyriam Srour, Bassam A Bejjani, Emily A Rorem, et al.
Prenatal Diagnosis|September 8, 2011
The 2010 Malcolm Ferguson-Smith Young Investigator AwardDiana W Bianchi, Lyn S Chitty, Jan Deprest, et al.
American Journal of Medical Genetics. Part A|November 9, 2011
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delayTrilochan Sahoo, Aaron Theisen, Michael Marble, et al.
American Journal of Medical Genetics|April 27, 2002
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patientsYuan-Qing Wu, Bassem A Bejjani, Lap-Chee Tsui, et al.
Nature Genetics|December 4, 2001
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- miceClemencia Colmenares, Heidi A Heilstedt, Lisa G Shaffer, et al.
Human Genetics|July 19, 2006
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocationsMarzena Gajecka, Adam Pavlicek, Caron D Glotzbach, et al.
Pageof 22