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Neurogenetics
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July 12, 2018
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
R C Caylor, L Grote, I Thiffault, et al.
The Journal of General Physiology
|
October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
Isabelle Thiffault, David J Speca, Daniel C Austin, et al.
Neurogenetics
|
June 22, 2018
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
R C Caylor, L Grote, I Thiffault, et al.
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.
Page
of 7
Search research articles
Search
Showing results (41-50 of 70) with videos related to
Sort By:
Page
of 7
Neurogenetics
|
July 12, 2018
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
R C Caylor, L Grote, I Thiffault, et al.
The Journal of General Physiology
|
October 28, 2015
A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
Isabelle Thiffault, David J Speca, Daniel C Austin, et al.
Neurogenetics
|
June 22, 2018
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
R C Caylor, L Grote, I Thiffault, et al.
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.
Page
of 7