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Archives of Pathology & Laboratory Medicine
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August 26, 2014
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
Nazneen Aziz, Qin Zhao, Lynn Bry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Amir Hossein Saeidian, Michael E March, Leila Youssefian, et al.
International Journal of Molecular Sciences
|
March 13, 2025
Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects
Gloria K E Zodanu, John H Hwang, Jordan Mudery, et al.
The Journal of Molecular Diagnostics : JMD
|
August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology
Iris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C Green, Jonathan S Berg, Gerard T Berry, et al.
The Journal of Molecular Diagnostics : JMD
|
September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing
Shannon D Barker, Sherri Bale, Jessica Booker, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Biesecker et al
Ada Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
JAMA
|
October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disorders
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 13, 2021
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Yan Zhao, Lee-Kai Wang, Ascia Eskin, et al.
Human Mutation
|
November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Page
of 14
Search research articles
Search
Showing results (121-130 of 133) with videos related to
Sort By:
Page
of 14
Archives of Pathology & Laboratory Medicine
|
August 26, 2014
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
Nazneen Aziz, Qin Zhao, Lynn Bry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2024
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Amir Hossein Saeidian, Michael E March, Leila Youssefian, et al.
International Journal of Molecular Sciences
|
March 13, 2025
Whole-Exome Sequencing Identifies Novel GATA5/6 Variants in Right-Sided Congenital Heart Defects
Gloria K E Zodanu, John H Hwang, Jordan Mudery, et al.
The Journal of Molecular Diagnostics : JMD
|
August 25, 2012
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology
Iris Schrijver, Nazneen Aziz, Daniel H Farkas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2012
Exploring concordance and discordance for return of incidental findings from clinical sequencing
Robert C Green, Jonathan S Berg, Gerard T Berry, et al.
The Journal of Molecular Diagnostics : JMD
|
September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing
Shannon D Barker, Sherri Bale, Jessica Booker, et al.
American Journal of Human Genetics
|
September 3, 2021
Response to Biesecker et al
Ada Hamosh, Joanna S Amberger, Carol A Bocchini, et al.
JAMA
|
October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disorders
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.
Journal of Molecular Medicine (Berlin, Germany)
|
August 13, 2021
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
Yan Zhao, Lee-Kai Wang, Ascia Eskin, et al.
Human Mutation
|
November 7, 2019
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J Ngo, Jessica E Rexach, Hane Lee, et al.
Page
of 14