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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
American Journal of Human Genetics
|
February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
American Journal of Human Genetics
|
June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Clinical Genetics
|
November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Taila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Human Mutation
|
July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A Levy, Raissa Relator, Haley McConkey, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
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Search research articles
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Showing results (51-60 of 56) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 56 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
American Journal of Human Genetics
|
February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
American Journal of Human Genetics
|
June 4, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
Clinical Genetics
|
November 10, 2022
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
Taila Hartley, Élisabeth Soubry, Meryl Acker, et al.
Human Mutation
|
July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A Levy, Raissa Relator, Haley McConkey, et al.
The Journal of Clinical Investigation
|
November 14, 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, et al.
Page
of 6