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Lisa G Shaffer

Showing results (51-60 of 215) with videos related to

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American Journal of Medical Genetics. Part A|April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial featuresArie Koifman, Annette Feigenbaum, Weimin Bi, et al.
Journal of Human Genetics|May 19, 2006
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndromeJin-Yeong Han, Ji-Hyun Shin, Myong-Seok Han, et al.
American Journal of Medical Genetics. Part A|August 9, 2008
Williams syndrome in a preterm infant with phenotype of Alagille syndromePrakesh S Shah, Prashanth Murthy, David Skidmore, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 3, 2007
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the futureLisa G Shaffer, Bassem A Bejjani, Beth Torchia, et al.
Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc|January 22, 2019
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testingChristina J Ramirez, Melissa Krug, Adam Zahand, et al.
American Journal of Medical Genetics|September 20, 2002
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short armsV Reid Sutton, Karen J Coveler, Seema R Lalani, et al.
Cancer Genetics and Cytogenetics|December 11, 2007
Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniquesKwang-Sook Woo, Kyung-Soo Sung, Ki-Uk Kim, et al.
Prenatal Diagnosis|October 2, 2009
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarrayJustine Coppinger, Sarah Alliman, Allen N Lamb, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndromeLouise Chuang, Keiko Wakui, Whey-Chen Sue, et al.
Expert Opinion on Medical Diagnostics|March 15, 2013
In the middle of it all: a centered approach to chromosome analysisLisa G Shaffer, Blake C Ballif, Aaron Theisen, et al.
Pageof 22

Showing results (51-60 of 215) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics. Part A|April 29, 2010
A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial featuresArie Koifman, Annette Feigenbaum, Weimin Bi, et al.
Journal of Human Genetics|May 19, 2006
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndromeJin-Yeong Han, Ji-Hyun Shin, Myong-Seok Han, et al.
American Journal of Medical Genetics. Part A|August 9, 2008
Williams syndrome in a preterm infant with phenotype of Alagille syndromePrakesh S Shah, Prashanth Murthy, David Skidmore, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 3, 2007
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the futureLisa G Shaffer, Bassem A Bejjani, Beth Torchia, et al.
Journal of Veterinary Diagnostic Investigation : Official Publication of the American Association of Veterinary Laboratory Diagnosticians, Inc|January 22, 2019
Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testingChristina J Ramirez, Melissa Krug, Adam Zahand, et al.
American Journal of Medical Genetics|September 20, 2002
Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short armsV Reid Sutton, Karen J Coveler, Seema R Lalani, et al.
Cancer Genetics and Cytogenetics|December 11, 2007
Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniquesKwang-Sook Woo, Kyung-Soo Sung, Ki-Uk Kim, et al.
Prenatal Diagnosis|October 2, 2009
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarrayJustine Coppinger, Sarah Alliman, Allen N Lamb, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndromeLouise Chuang, Keiko Wakui, Whey-Chen Sue, et al.
Expert Opinion on Medical Diagnostics|March 15, 2013
In the middle of it all: a centered approach to chromosome analysisLisa G Shaffer, Blake C Ballif, Aaron Theisen, et al.
Pageof 22