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Christa L Martin

Showing results (31-40 of 68) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2013
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalitiesHeather Mason-Suares, Wayne Kim, Leslie Grimmett, et al.
Applied Clinical Informatics|September 1, 2016
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton StandardBret S E Heale, Casey Lynnette Overby, Guilherme Del Fiol, et al.
Genome Biology and Evolution|July 14, 2010
Evolution of a bitter taste receptor gene cluster in a New World sparrowJamie K Davis, Josh J Lowman, Pamela J Thomas, et al.
Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
American Journal of Human Genetics|January 9, 2008
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcón, Brett S Abrahams, Jennifer L Stone, et al.
Annals of the New York Academy of Sciences|August 3, 2021
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia reportJennifer Cable, Ryan H Purcell, Elise Robinson, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Human Genetics|March 7, 2003
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Carlos Cardoso, Richard J Leventer, Heather L Ward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Pageof 7

Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2013
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalitiesHeather Mason-Suares, Wayne Kim, Leslie Grimmett, et al.
Applied Clinical Informatics|September 1, 2016
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton StandardBret S E Heale, Casey Lynnette Overby, Guilherme Del Fiol, et al.
Genome Biology and Evolution|July 14, 2010
Evolution of a bitter taste receptor gene cluster in a New World sparrowJamie K Davis, Josh J Lowman, Pamela J Thomas, et al.
Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
American Journal of Human Genetics|January 9, 2008
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcón, Brett S Abrahams, Jennifer L Stone, et al.
Annals of the New York Academy of Sciences|August 3, 2021
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia reportJennifer Cable, Ryan H Purcell, Elise Robinson, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Human Genetics|March 7, 2003
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Carlos Cardoso, Richard J Leventer, Heather L Ward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Pageof 7