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Robert E Pyatt

Showing results (11-20 of 22) with videos related to

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European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
European Journal of Medical Genetics|March 6, 2019
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disordersElena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
12q14 microdeletion associated with HMGA2 gene disruption and growth restrictionFadel Alyaqoub, Robert E Pyatt, Andrea Bailes, et al.
American Journal of Medical Genetics. Part A|July 13, 2012
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patientsElena A Repnikova, Caroline Astbury, Shalini C Reshmi, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Newborn and carrier screening for spinal muscular atrophyThomas W Prior, Pamela J Snyder, Britton D Rink, et al.
Forensic Science International. Genetics|August 17, 2013
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridizationElena A Repnikova, Jill A Rosenfeld, Andrea Bailes, et al.
BMC Medical Genomics|March 15, 2022
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasetsPraveen F Cherukuri, Melissa M Soe, David E Condon, et al.
The Journal of Molecular Diagnostics : JMD|March 1, 2011
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panelLisa Kalman, Jay Leonard, Norman Gerry, 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.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
European Journal of Medical Genetics|May 14, 2014
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasiaLauren C Walters-Sen, Devon Lamb Thrush, Scott E Hickey, et al.
European Journal of Medical Genetics|March 6, 2019
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disordersElena A Repnikova, Dmitry A Lyalin, Kimberly McDonald, et al.
American Journal of Medical Genetics. Part A|September 19, 2012
12q14 microdeletion associated with HMGA2 gene disruption and growth restrictionFadel Alyaqoub, Robert E Pyatt, Andrea Bailes, et al.
American Journal of Medical Genetics. Part A|July 13, 2012
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patientsElena A Repnikova, Caroline Astbury, Shalini C Reshmi, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Newborn and carrier screening for spinal muscular atrophyThomas W Prior, Pamela J Snyder, Britton D Rink, et al.
Forensic Science International. Genetics|August 17, 2013
Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridizationElena A Repnikova, Jill A Rosenfeld, Andrea Bailes, et al.
BMC Medical Genomics|March 15, 2022
Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasetsPraveen F Cherukuri, Melissa M Soe, David E Condon, et al.
The Journal of Molecular Diagnostics : JMD|March 1, 2011
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panelLisa Kalman, Jay Leonard, Norman Gerry, 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.
European Journal of Human Genetics : EJHG|May 2, 2013
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorderSureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, et al.
Pageof 3