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Lisa G Shaffer

Showing results (201-210 of 215) with videos related to

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Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, 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.
Proceedings of the National Academy of Sciences of the United States of America|July 15, 2009
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomiesJan O Korbel, Tal Tirosh-Wagner, Alexander Eckehart Urban, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
American Journal of Human Genetics|February 1, 2011
Mutations in prickle orthologs cause seizures in flies, mice, and humansHirotaka Tao, J Robert Manak, Levi Sowers, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, 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 22

Showing results (201-210 of 215) with videos related to

Sort By:
Pageof 22
Cell|April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundariesMichael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, 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.
Proceedings of the National Academy of Sciences of the United States of America|July 15, 2009
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomiesJan O Korbel, Tal Tirosh-Wagner, Alexander Eckehart Urban, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
American Journal of Human Genetics|February 1, 2011
Mutations in prickle orthologs cause seizures in flies, mice, and humansHirotaka Tao, J Robert Manak, Levi Sowers, et al.
American Journal of Human Genetics|June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsPaweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.
American Journal of Human Genetics|April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHiromi Hirata, Indrajit Nanda, Anne van Riesen, 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 22