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American Journal of Medical Genetics. Part A
|
September 2, 2020
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction
Georgianne Younger, Francesco Vetrini, David D Weaver, et al.
Scientific Reports
|
March 14, 2018
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy
Patrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, et al.
Molecular Genetics and Metabolism
|
June 24, 2023
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)
Melissa A Fayette, Kevin T A Booth, Ty C Lynnes, et al.
Frontiers in Cardiovascular Medicine
|
April 1, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders
Patrícia B S Celestino-Soper, Hongyu Gao, Ty C Lynnes, et al.
Scientific Reports
|
December 21, 2016
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Patricia B S Celestino-Soper, Edward Simpson, Danika Tumbleson Brink, et al.
Clinical and Translational Science
|
July 24, 2020
Tracheal Aspirate as an Alternative Biologic Sample for Pharmacogenomics Testing in Mechanically Ventilated Pediatric Patients
Katherine A Hargreaves, Victoria M Pratt, Elizabeth B Medeiros, et al.
The Journal of Molecular Diagnostics : JMD
|
May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project
Victoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
Plos One
|
December 5, 2015
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, et al.
The Journal of Molecular Diagnostics : JMD
|
November 16, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project
Thomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, et al.
The Journal of Molecular Diagnostics : JMD
|
April 22, 2022
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing
Reynold C Ly, Tyler Shugg, Ryan Ratcliff, et al.
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Search research articles
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Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
September 2, 2020
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction
Georgianne Younger, Francesco Vetrini, David D Weaver, et al.
Scientific Reports
|
March 14, 2018
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy
Patrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, et al.
Molecular Genetics and Metabolism
|
June 24, 2023
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)
Melissa A Fayette, Kevin T A Booth, Ty C Lynnes, et al.
Frontiers in Cardiovascular Medicine
|
April 1, 2017
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders
Patrícia B S Celestino-Soper, Hongyu Gao, Ty C Lynnes, et al.
Scientific Reports
|
December 21, 2016
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Patricia B S Celestino-Soper, Edward Simpson, Danika Tumbleson Brink, et al.
Clinical and Translational Science
|
July 24, 2020
Tracheal Aspirate as an Alternative Biologic Sample for Pharmacogenomics Testing in Mechanically Ventilated Pediatric Patients
Katherine A Hargreaves, Victoria M Pratt, Elizabeth B Medeiros, et al.
The Journal of Molecular Diagnostics : JMD
|
May 21, 2021
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project
Victoria M Pratt, Amy Turner, Ulrich Broeckel, et al.
Plos One
|
December 5, 2015
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Patrícia B S Celestino-Soper, Anisiia Doytchinova, Hillel A Steiner, et al.
The Journal of Molecular Diagnostics : JMD
|
November 16, 2020
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project
Thomas W Prior, Pinar Bayrak-Toydemir, Ty C Lynnes, et al.
The Journal of Molecular Diagnostics : JMD
|
April 22, 2022
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing
Reynold C Ly, Tyler Shugg, Ryan Ratcliff, et al.
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