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Cold Spring Harbor molecular case studies

Showing results (111-120 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 5, 2019
Personalized viral genomic investigation of herpes simplex virus 1 perinatal viremic transmission with dual fatalityMackenzie M Shipley, Daniel W Renner, Utsav Pandey, et al.
Cold Spring Harbor Molecular Case Studies|January 13, 2022
Whole-exome sequencing detects <i>PYGM</i> variants in two adults with McArdle diseaseAmanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al.
Cold Spring Harbor Molecular Case Studies|December 10, 2021
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in <i>PIK3CA</i>Sarah E Sheppard, Victoria R Sanders, Abhay Srinivasan, et al.
Cold Spring Harbor Molecular Case Studies|December 10, 2021
Mosaicism and the taxonomy of human diseaseLeslie G Biesecker
Cold Spring Harbor Molecular Case Studies|January 11, 2022
Functional impact and targetability of <i>PI3KCA</i>, <i>GNAS</i>, and <i>PTEN</i> mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutationFlorence Choo, Igor Odintsov, Kevin Nusser, et al.
Cold Spring Harbor Molecular Case Studies|February 2, 2022
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literatureMinh G Nguyen, Lauren Tronick, Faraz Modirian, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A novel <i>TBK1</i> mutation in a family with diverse frontotemporal dementia spectrum disordersRuth Lamb, Jonathan D Rohrer, Raquel Real, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factorEva Tootleman, Barbara Malamut, Natacha Akshoomoff, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Elucidating a false-negative <i>MYC</i> break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with <i>IGH/MYC</i> and <i>IGH/BCL2</i> rearrangementsJess F Peterson, Beth A Pitel, Stephanie A Smoley, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndromeChen Yang, Frances Austin, Hope Richard, et al.
Pageof 48

Showing results (111-120 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|October 5, 2019
Personalized viral genomic investigation of herpes simplex virus 1 perinatal viremic transmission with dual fatalityMackenzie M Shipley, Daniel W Renner, Utsav Pandey, et al.
Cold Spring Harbor Molecular Case Studies|January 13, 2022
Whole-exome sequencing detects <i>PYGM</i> variants in two adults with McArdle diseaseAmanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al.
Cold Spring Harbor Molecular Case Studies|December 10, 2021
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in <i>PIK3CA</i>Sarah E Sheppard, Victoria R Sanders, Abhay Srinivasan, et al.
Cold Spring Harbor Molecular Case Studies|December 10, 2021
Mosaicism and the taxonomy of human diseaseLeslie G Biesecker
Cold Spring Harbor Molecular Case Studies|January 11, 2022
Functional impact and targetability of <i>PI3KCA</i>, <i>GNAS</i>, and <i>PTEN</i> mutations in a spindle cell rhabdomyosarcoma with MYOD1 L122R mutationFlorence Choo, Igor Odintsov, Kevin Nusser, et al.
Cold Spring Harbor Molecular Case Studies|February 2, 2022
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literatureMinh G Nguyen, Lauren Tronick, Faraz Modirian, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A novel <i>TBK1</i> mutation in a family with diverse frontotemporal dementia spectrum disordersRuth Lamb, Jonathan D Rohrer, Raquel Real, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factorEva Tootleman, Barbara Malamut, Natacha Akshoomoff, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Elucidating a false-negative <i>MYC</i> break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with <i>IGH/MYC</i> and <i>IGH/BCL2</i> rearrangementsJess F Peterson, Beth A Pitel, Stephanie A Smoley, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndromeChen Yang, Frances Austin, Hope Richard, et al.
Pageof 48