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Andrea Behlmann

Showing results (1-10 of 6) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 2, 2021
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Elaine Spector, Andrea Behlmann, Kathryn Kronquist, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual developmentZhiyu Qian, Katheryn Grand, Andrew Freedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2020
Addendum: Technical standards and guidelines for spinal muscular atrophy testingJoshua L Deignan, Caroline Astbury, Andrea Behlmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2022
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)Gordana Raca, Caroline Astbury, Andrea Behlmann, et al.
Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 2, 2021
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Elaine Spector, Andrea Behlmann, Kathryn Kronquist, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual developmentZhiyu Qian, Katheryn Grand, Andrew Freedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 13, 2020
Addendum: Technical standards and guidelines for spinal muscular atrophy testingJoshua L Deignan, Caroline Astbury, Andrea Behlmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2022
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)Gordana Raca, Caroline Astbury, Andrea Behlmann, et al.
Annals of Clinical and Translational Neurology|June 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophyChristine C Bruels, Hannah R Littel, Audrey L Daugherty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panelsErin Rooney Riggs, Taylor I Bingaman, Carrie-Ann Barry, et al.
Pageof 1