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Lisa G Shaffer

Showing results (161-170 of 215) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratoriesKaren D Tsuchiya, Lisa G Shaffer, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patientsShimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
The New England Journal of Medicine|December 11, 2012
Clinical diagnosis by whole-genome sequencing of a prenatal sampleMichael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, et al.
Genome Research|February 18, 2011
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesSanaa Choufani, Jonathan S Shapiro, Martha Susiarjo, et al.
Plos One|September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene clusterJill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2009
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsJill A Rosenfeld, Kathleen Leppig, Blake C Ballif, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
Cell|May 8, 2012
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationMegan Y Dennis, Xander Nuttle, Peter H Sudmant, et al.
Circulation. Cardiovascular Genetics|September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defectsAbigail S Carey, Li Liang, Jonathan Edwards, et al.
Pageof 22

Showing results (161-170 of 215) with videos related to

Sort By:
Pageof 22
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 12, 2009
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratoriesKaren D Tsuchiya, Lisa G Shaffer, Swaroop Aradhya, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patientsShimul Chowdhury, Anne M Bandholz, Sandhya Parkash, et al.
The New England Journal of Medicine|December 11, 2012
Clinical diagnosis by whole-genome sequencing of a prenatal sampleMichael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, et al.
Genome Research|February 18, 2011
A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesSanaa Choufani, Jonathan S Shapiro, Martha Susiarjo, et al.
Plos One|September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A|March 11, 2015
Clinical features associated with copy number variations of the 14q32 imprinted gene clusterJill A Rosenfeld, Joyce E Fox, Maria Descartes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2009
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsJill A Rosenfeld, Kathleen Leppig, Blake C Ballif, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
Cell|May 8, 2012
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplicationMegan Y Dennis, Xander Nuttle, Peter H Sudmant, et al.
Circulation. Cardiovascular Genetics|September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defectsAbigail S Carey, Li Liang, Jonathan Edwards, et al.
Pageof 22