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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
Moving toward more consistency in variant classification and clinical action
Karen L David, Joshua L Deignan
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2013
Technical report: Ethical and policy issues in genetic testing and screening of children
Lainie Friedman Ross, Laine Friedman Ross, Howard M Saal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2018
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Lynn W Bush, Louis E Bartoshesky, Karen L David, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2013
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Catherine W Rehder, Karen L David, Betsy Hirsch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 7, 2013
Response to Rosenberg et al
Catherine W Rehder, Karen L David, Betsy Hirsch, et al.
Journal of Medical Genetics
|
January 16, 2007
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
Julie Desir, Graciela Moya, Orit Reish, et al.
Human Genetics
|
September 4, 2014
Whole exome sequence analysis of Peters anomaly
Eric Weh, Linda M Reis, Hannah C Happ, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 12, 2019
Response to Knoppers et al
Karen L David, Robert G Best, Leslie Manace Brenman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2018
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Karen L David, Robert G Best, Leslie Manace Brenman, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 2, 2005
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
Stephan M Tanner, Zhongyuan Li, James D Perko, et al.
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of 2
Search research articles
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Showing results (1-10 of 13) with videos related to
Sort By:
Page
of 2
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 18, 2022
Moving toward more consistency in variant classification and clinical action
Karen L David, Joshua L Deignan
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 23, 2013
Technical report: Ethical and policy issues in genetic testing and screening of children
Lainie Friedman Ross, Laine Friedman Ross, Howard M Saal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 23, 2018
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Lynn W Bush, Louis E Bartoshesky, Karen L David, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2013
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
Catherine W Rehder, Karen L David, Betsy Hirsch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 7, 2013
Response to Rosenberg et al
Catherine W Rehder, Karen L David, Betsy Hirsch, et al.
Journal of Medical Genetics
|
January 16, 2007
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
Julie Desir, Graciela Moya, Orit Reish, et al.
Human Genetics
|
September 4, 2014
Whole exome sequence analysis of Peters anomaly
Eric Weh, Linda M Reis, Hannah C Happ, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 12, 2019
Response to Knoppers et al
Karen L David, Robert G Best, Leslie Manace Brenman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2018
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)
Karen L David, Robert G Best, Leslie Manace Brenman, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 2, 2005
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
Stephan M Tanner, Zhongyuan Li, James D Perko, et al.
Page
of 2