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Blake C Ballif

Showing results (61-70 of 83) with videos related to

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Molecular Cytogenetics|May 13, 2008
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif, Aaron Theisen, Justine Coppinger, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Prenatal Diagnosis|June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesLisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
Nature Genetics|August 24, 2010
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, et al.
European Journal of Medical Genetics|October 19, 2010
New cases and refinement of the critical region in the 1q41q42 microdeletion syndromeJill A Rosenfeld, Yves Lacassie, Dima El-Khechen, et al.
Molecular Cytogenetics|November 18, 2011
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysisKathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, 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.
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.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Molecular Cytogenetics|May 13, 2008
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif, Aaron Theisen, Justine Coppinger, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypesJill A Rosenfeld, Joanne Milisa Drautz, Carol L Clericuzio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
Prenatal Diagnosis|June 22, 2011
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesLisa G Shaffer, Justine Coppinger, S Annie Morton, et al.
Nature Genetics|August 24, 2010
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, et al.
European Journal of Medical Genetics|October 19, 2010
New cases and refinement of the critical region in the 1q41q42 microdeletion syndromeJill A Rosenfeld, Yves Lacassie, Dima El-Khechen, et al.
Molecular Cytogenetics|November 18, 2011
Evaluation of chronic lymphocytic leukemia by oligonucleotide-based microarray analysis uncovers novel aberrations not detected by FISH or cytogenetic analysisKathryn A Kolquist, Roger A Schultz, Marilyn L Slovak, 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.
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.
Pageof 9