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Cold Spring Harbor molecular case studies

Showing results (271-280 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|June 3, 2018
Erratum: Whole-exome sequencing identifies germline mutation in <i>TP53</i> and <i>ATRX</i> in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytomaKristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Dual inhibition of BRAF and mTOR in <i>BRAF</i><sup></sup> -mutant pediatric, adolescent, and young adult brain tumorsShiraj Sen, Ryuma Tanaka, Soumen Khatua, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group CErica L Macke, Joel A Morales-Rosado, Aditi Gupta, et al.
Cold Spring Harbor Molecular Case Studies|July 24, 2020
<i>TRIM28</i> congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pairColin Moore, Hector Monforte, Jamie K Teer, et al.
Cold Spring Harbor Molecular Case Studies|March 30, 2023
Progressive metastatic infantile fibrosarcoma with multiple acquired mutationsLarissa V Furtado, Marija Kacar, Roya Mostafavi, et al.
Cold Spring Harbor Molecular Case Studies|January 31, 2019
Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC</i> variant, c.4666dupPatrick Kiessling, Eric Dowling, Yajue Huang, et al.
Cold Spring Harbor Molecular Case Studies|February 15, 2020
Comparative single-cell RNA sequencing (scRNA-seq) reveals liver metastasis-specific targets in a patient with small intestinal neuroendocrine cancerManisha Rao, Ki Oh, Richard Moffitt, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Mutations in <i>NRXN1</i> and <i>NRXN2</i> in a patient with early-onset epileptic encephalopathy and respiratory depressionAnne M Rochtus, Sara Trowbridge, Richard D Goldstein, et al.
Cold Spring Harbor Molecular Case Studies|November 30, 2018
High-frequency actionable pathogenic exome variants in an average-risk cohortShannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Diagnosing rare diseases after the exomeLaure Frésard, Stephen B Montgomery
Pageof 48

Showing results (271-280 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|June 3, 2018
Erratum: Whole-exome sequencing identifies germline mutation in <i>TP53</i> and <i>ATRX</i> in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytomaKristiina Nordfors, Joonas Haapasalo, Ebrahim Afyounian, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
Dual inhibition of BRAF and mTOR in <i>BRAF</i><sup></sup> -mutant pediatric, adolescent, and young adult brain tumorsShiraj Sen, Ryuma Tanaka, Soumen Khatua, et al.
Cold Spring Harbor Molecular Case Studies|August 27, 2020
A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group CErica L Macke, Joel A Morales-Rosado, Aditi Gupta, et al.
Cold Spring Harbor Molecular Case Studies|July 24, 2020
<i>TRIM28</i> congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pairColin Moore, Hector Monforte, Jamie K Teer, et al.
Cold Spring Harbor Molecular Case Studies|March 30, 2023
Progressive metastatic infantile fibrosarcoma with multiple acquired mutationsLarissa V Furtado, Marija Kacar, Roya Mostafavi, et al.
Cold Spring Harbor Molecular Case Studies|January 31, 2019
Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC</i> variant, c.4666dupPatrick Kiessling, Eric Dowling, Yajue Huang, et al.
Cold Spring Harbor Molecular Case Studies|February 15, 2020
Comparative single-cell RNA sequencing (scRNA-seq) reveals liver metastasis-specific targets in a patient with small intestinal neuroendocrine cancerManisha Rao, Ki Oh, Richard Moffitt, et al.
Cold Spring Harbor Molecular Case Studies|February 3, 2019
Mutations in <i>NRXN1</i> and <i>NRXN2</i> in a patient with early-onset epileptic encephalopathy and respiratory depressionAnne M Rochtus, Sara Trowbridge, Richard D Goldstein, et al.
Cold Spring Harbor Molecular Case Studies|November 30, 2018
High-frequency actionable pathogenic exome variants in an average-risk cohortShannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Diagnosing rare diseases after the exomeLaure Frésard, Stephen B Montgomery
Pageof 48