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Clinical Chemistry
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July 23, 2022
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
Lisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, et al.
NPJ Genomic Medicine
|
December 22, 2017
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
NPJ Genomic Medicine
|
December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequences
Aaron C Noll, Neil A Miller, Laurie D Smith, et al.
NPJ Genomic Medicine
|
December 22, 2017
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Lisa A Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 19, 2011
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
Emily G Farrow, Xijie Yu, Lelia J Summers, et al.
The Journal of Molecular Diagnostics : JMD
|
February 8, 2022
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Andrea Gaedigk, Erin C Boone, Steven E Scherer, et al.
Genome Medicine
|
April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
The Journal of Clinical Investigation
|
November 29, 2012
Circulating αKlotho influences phosphate handling by controlling FGF23 production
Rosamund C Smith, Linda M O'Bryan, Emily G Farrow, et al.
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Search research articles
Search
Showing results (31-40 of 58) with videos related to
Sort By:
Page
of 6
Clinical Chemistry
|
July 23, 2022
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies
Lisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, et al.
NPJ Genomic Medicine
|
December 22, 2017
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
NPJ Genomic Medicine
|
December 22, 2017
Clinical detection of deletion structural variants in whole-genome sequences
Aaron C Noll, Neil A Miller, Laurie D Smith, et al.
NPJ Genomic Medicine
|
December 22, 2017
Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, <i>CYP2D6</i>, from whole-genome sequences
Greyson P Twist, Andrea Gaedigk, Neil A Miller, et al.
The Journal of Molecular Diagnostics : JMD
|
February 25, 2021
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Lisa A Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 19, 2011
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
Emily G Farrow, Xijie Yu, Lelia J Summers, et al.
The Journal of Molecular Diagnostics : JMD
|
February 8, 2022
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project
Andrea Gaedigk, Erin C Boone, Steven E Scherer, et al.
Genome Medicine
|
April 14, 2025
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, et al.
NPJ Genomic Medicine
|
February 17, 2018
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A Cakici, Michelle M Clark, et al.
The Journal of Clinical Investigation
|
November 29, 2012
Circulating αKlotho influences phosphate handling by controlling FGF23 production
Rosamund C Smith, Linda M O'Bryan, Emily G Farrow, et al.
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of 6