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Lisa G Shaffer

Showing results (181-190 of 215) with videos related to

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American Journal of Medical Genetics. Part A|June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypesJill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, et al.
Pediatrics|October 17, 2012
Clinical utility of chromosomal microarray analysisJay W Ellison, J Britt Ravnan, Jill A Rosenfeld, et al.
Nature Genetics|August 21, 2007
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, et al.
Human Molecular Genetics|February 6, 2009
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionJustine Coppinger, Donna McDonald-McGinn, Elaine Zackai, et al.
Journal of Medical Genetics|January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformationGregory Ryan Handrigan, David Chitayat, Anath C Lionel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, 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.
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.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
Pageof 22

Showing results (181-190 of 215) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics. Part A|June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypesJill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, et al.
Pediatrics|October 17, 2012
Clinical utility of chromosomal microarray analysisJay W Ellison, J Britt Ravnan, Jill A Rosenfeld, et al.
Nature Genetics|August 21, 2007
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, et al.
Human Molecular Genetics|February 6, 2009
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionJustine Coppinger, Donna McDonald-McGinn, Elaine Zackai, et al.
Journal of Medical Genetics|January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformationGregory Ryan Handrigan, David Chitayat, Anath C Lionel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, 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.
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.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
Pageof 22