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Blake C Ballif

Showing results (71-80 of 83) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|August 21, 2012
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart developmentKasper Lage, Steven C Greenway, Jill A Rosenfeld, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
Pageof 9

Showing results (71-80 of 83) with videos related to

Sort By:
Pageof 9
Proceedings of the National Academy of Sciences of the United States of America|August 21, 2012
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart developmentKasper Lage, Steven C Greenway, Jill A Rosenfeld, et al.
Neurogenetics|February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathwaysAlex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
The New England Journal of Medicine|December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosisRonald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 28, 2013
Mouse model implicates GNB3 duplication in a childhood obesity syndromeIan S Goldlust, Karen E Hermetz, Lisa M Catalano, et al.
Neurogenetics|January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new casesJill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
American Journal of Human Genetics|March 9, 2010
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif, Aaron Theisen, Jill A Rosenfeld, et al.
Human Genetics|July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Investigation of NRXN1 deletions: clinical and molecular characterizationMindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, et al.
Human Mutation|February 1, 2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic featuresAllen N Lamb, Jill A Rosenfeld, Nicholas J Neill, et al.
Pageof 9