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Joshua L Deignan

Showing results (11-20 of 53) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2021
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Elizabeth C Chao, Caroline Astbury, Joshua L Deignan, et al.
Molecular Genetics & Genomic Medicine|November 9, 2019
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centersCeleste C Eno, Stacey K Barton, Naghmeh Dorrani, et al.
Molecular Genetics and Metabolism|February 24, 2010
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemiaJoshua L Deignan, Peter P De Deyn, Stephen D Cederbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2014
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel P Strom, Hane Lee, Kingshuk Das, et al.
Molecular Genetics and Metabolism|September 7, 2010
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiencyFabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 25, 2019
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Wendy K Chung, Hutton M Kearney, et al.
The Journal of Molecular Diagnostics : JMD|April 22, 2014
Molecular pathology curriculum for medical laboratory scientists: A report of the association for molecular pathology training and education committeeSara Taylor, Katie M Bennett, Joshua L Deignan, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2020
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Elizabeth Chao, Jennifer L Gannon, et al.
Pharmacogenomics|March 3, 2012
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementationFrank S Ong, Joshua L Deignan, Jane Z Kuo, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

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Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2021
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Elizabeth C Chao, Caroline Astbury, Joshua L Deignan, et al.
Molecular Genetics & Genomic Medicine|November 9, 2019
Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centersCeleste C Eno, Stacey K Barton, Naghmeh Dorrani, et al.
Molecular Genetics and Metabolism|February 24, 2010
Guanidino compound levels in blood, cerebrospinal fluid, and post-mortem brain material of patients with argininemiaJoshua L Deignan, Peter P De Deyn, Stephen D Cederbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2014
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel P Strom, Hane Lee, Kingshuk Das, et al.
Molecular Genetics and Metabolism|September 7, 2010
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiencyFabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 25, 2019
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Wendy K Chung, Hutton M Kearney, et al.
The Journal of Molecular Diagnostics : JMD|April 22, 2014
Molecular pathology curriculum for medical laboratory scientists: A report of the association for molecular pathology training and education committeeSara Taylor, Katie M Bennett, Joshua L Deignan, et al.
European Journal of Medical Genetics|January 2, 2016
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencingNatalia Babkina, Joshua L Deignan, Hane Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 15, 2020
Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)Joshua L Deignan, Elizabeth Chao, Jennifer L Gannon, et al.
Pharmacogenomics|March 3, 2012
Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementationFrank S Ong, Joshua L Deignan, Jane Z Kuo, et al.
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