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Elizabeth A Worthey

Showing results (31-40 of 50) with videos related to

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Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
The Journal of Molecular Diagnostics : JMD|March 20, 2017
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical SettingsIra M Lubin, Nazneen Aziz, Lawrence J Babb, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|April 13, 2024
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS PathwayJoão Lobo, Sofia Canete-Portillo, Maria Del Carmen Rodriguez Pena, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2010
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseElizabeth A Worthey, Alan N Mayer, Grant D Syverson, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Proteins|December 14, 2005
Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 2.25 A resolution reveals intriguing extra electron density in the active siteMark A Robien, Jürgen Bosch, Frederick S Buckner, et al.
Science Translational Medicine|July 19, 2013
Genomics in clinical practice: lessons from the front linesHoward J Jacob, Kelly Abrams, David P Bick, et al.
Journal of Pediatric Genetics|May 13, 2017
Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicDavid Bick, Pamela C Fraser, Michael F Gutzeit, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
Journal of Genetic Counseling|April 10, 2019
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencingDiane B Zastrow, Jennefer N Kohler, Devon Bonner, et al.
NPJ Genomic Medicine|October 28, 2020
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseChristian R Marshall, Shimul Chowdhury, Ryan J Taft, et al.
The Journal of Molecular Diagnostics : JMD|March 20, 2017
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical SettingsIra M Lubin, Nazneen Aziz, Lawrence J Babb, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|April 13, 2024
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS PathwayJoão Lobo, Sofia Canete-Portillo, Maria Del Carmen Rodriguez Pena, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2010
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseElizabeth A Worthey, Alan N Mayer, Grant D Syverson, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Proteins|December 14, 2005
Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 2.25 A resolution reveals intriguing extra electron density in the active siteMark A Robien, Jürgen Bosch, Frederick S Buckner, et al.
Science Translational Medicine|July 19, 2013
Genomics in clinical practice: lessons from the front linesHoward J Jacob, Kelly Abrams, David P Bick, et al.
Journal of Pediatric Genetics|May 13, 2017
Successful Application of Whole Genome Sequencing in a Medical Genetics ClinicDavid Bick, Pamela C Fraser, Michael F Gutzeit, et al.
Human Molecular Genetics|May 5, 2018
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorderNing Liu, Kelly Schoch, Xi Luo, et al.
Pageof 5