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Catherine W Rehder

Showing results (1-10 of 30) with videos related to

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Clinics in Laboratory Medicine|November 29, 2011
The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexityKristen L Deak, Sarah R Horn, Catherine W Rehder
Clinical Case Reports|June 8, 2017
Identification of <i>EPCAM</i> mutation: clinical use of microarrayQueenie K-G Tan, Diana M Cardona, Catherine W Rehder, et al.
Frontiers in Genetics|October 17, 2022
Development of a clinically validated <i>in vitro</i> functional assay to assess pathogenicity of novel <i>GAA</i> variants in patients with Pompe disease identified <i>via</i> newborn screeningShelly Goomber, Erin Huggins, Catherine W Rehder, 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 testingCatherine 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 alCatherine W Rehder, Karen L David, Betsy Hirsch, 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.
Journal of Pediatric Genetics|February 8, 2021
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye SyndromeJason L Williams, Marie T McDonald, Bryce A Seifert, et al.
International Journal of Neonatal Screening|February 28, 2022
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular DystrophyBrooke A Migliore, Linran Zhou, Martin Duparc, et al.
The Journal of Biological Chemistry|July 9, 2002
Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunctionLynne W Elmore, Catherine W Rehder, Xu Di, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Clinical experience with array CGH: case presentations from nine months of practiceAlexis F Poss, Paula C Goldenberg, Catherine W Rehder, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Clinics in Laboratory Medicine|November 29, 2011
The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexityKristen L Deak, Sarah R Horn, Catherine W Rehder
Clinical Case Reports|June 8, 2017
Identification of <i>EPCAM</i> mutation: clinical use of microarrayQueenie K-G Tan, Diana M Cardona, Catherine W Rehder, et al.
Frontiers in Genetics|October 17, 2022
Development of a clinically validated <i>in vitro</i> functional assay to assess pathogenicity of novel <i>GAA</i> variants in patients with Pompe disease identified <i>via</i> newborn screeningShelly Goomber, Erin Huggins, Catherine W Rehder, 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 testingCatherine 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 alCatherine W Rehder, Karen L David, Betsy Hirsch, 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.
Journal of Pediatric Genetics|February 8, 2021
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye SyndromeJason L Williams, Marie T McDonald, Bryce A Seifert, et al.
International Journal of Neonatal Screening|February 28, 2022
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular DystrophyBrooke A Migliore, Linran Zhou, Martin Duparc, et al.
The Journal of Biological Chemistry|July 9, 2002
Adriamycin-induced senescence in breast tumor cells involves functional p53 and telomere dysfunctionLynne W Elmore, Catherine W Rehder, Xu Di, et al.
American Journal of Medical Genetics. Part A|August 15, 2006
Clinical experience with array CGH: case presentations from nine months of practiceAlexis F Poss, Paula C Goldenberg, Catherine W Rehder, et al.
Pageof 3