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Lisa G Shaffer

Showing results (131-140 of 215) with videos related to

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American Journal of Medical Genetics. Part A|April 9, 2009
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsyAaron Theisen, Jill A Rosenfeld, Sandra A Farrell, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Prenatal Diagnosis|April 3, 2012
Referral patterns for microarray testing in prenatal diagnosisLisa G Shaffer, Mindy Preston Dabell, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palateTrilochan Sahoo, Aaron Theisen, Pedro A Sanchez-Lara, et al.
American Journal of Human Genetics|September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 18, 2007
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndromeLisa G Shaffer, Aaron Theisen, Bassem A Bejjani, et al.
Molecular Cytogenetics|February 5, 2011
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysisRoger A Schultz, Maria Delioukina, Karl Gaal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2012
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotypeKimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, et al.
Molecular Cytogenetics|November 17, 2010
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromesMarilyn L Slovak, David D Smith, Victoria Bedell, et al.
Disease Markers|May 20, 2014
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCRPricila da Silva Cunha, Heloisa B Pena, Carla Sustek D'Angelo, et al.
Pageof 22

Showing results (131-140 of 215) with videos related to

Sort By:
Pageof 22
American Journal of Medical Genetics. Part A|April 9, 2009
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsyAaron Theisen, Jill A Rosenfeld, Sandra A Farrell, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Prenatal Diagnosis|April 3, 2012
Referral patterns for microarray testing in prenatal diagnosisLisa G Shaffer, Mindy Preston Dabell, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palateTrilochan Sahoo, Aaron Theisen, Pedro A Sanchez-Lara, et al.
American Journal of Human Genetics|September 26, 2002
Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue, Hitoshi Osaka, Virginia C Thurston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 18, 2007
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndromeLisa G Shaffer, Aaron Theisen, Bassem A Bejjani, et al.
Molecular Cytogenetics|February 5, 2011
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysisRoger A Schultz, Maria Delioukina, Karl Gaal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 14, 2012
NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotypeKimberly J Moles, Gordon C Gowans, Satyanarayana Gedela, et al.
Molecular Cytogenetics|November 17, 2010
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromesMarilyn L Slovak, David D Smith, Victoria Bedell, et al.
Disease Markers|May 20, 2014
Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCRPricila da Silva Cunha, Heloisa B Pena, Carla Sustek D'Angelo, et al.
Pageof 22