Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Cold Spring Harbor molecular case studies

Showing results (251-260 of 479) with videos related to

Pageof 48
Sort By:
Cold Spring Harbor Molecular Case Studies|August 3, 2018
Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline <i>CHEK2</i>:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinomaMy Linh Thibodeau, Caralyn Reisle, Eric Zhao, et al.
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndromeChristopher A Ours, Julie C Sapp, Mia B Hodges, et al.
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Bockenheimer disease is associated with a <i>TEK</i> variantChristopher L Sudduth, Dennis J Konczyk, Patrick J Smits, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2019
Rapid development and use of patient-specific ctDNA biomarkers to avoid a "rash decision" in an ovarian cancer patientDeep Pandya, Sandra Catalina Camacho, Maria M Padron, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancerHannah N Bell, Chandan Kumar-Sinha, Rahul Mannan, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Corrigendum: 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|January 29, 2022
Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in diseaseSwetha Ramadesikan, Scott Hickey, Emily De Los Reyes, et al.
Cold Spring Harbor Molecular Case Studies|October 11, 2018
Detection of endometrial precancer by a targeted gynecologic cancer liquid biopsyJohn A Martignetti, Deep Pandya, Nimesh Nagarsheth, et al.
Cold Spring Harbor Molecular Case Studies|March 2, 2022
A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndromeFeng Xu, Erfan Aref-Eshghi, Jinhua Wu, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcomaKenneth S Chen, Woo Sun Kwon, Jiwoong Kim, et al.
Pageof 48

Showing results (251-260 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|August 3, 2018
Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline <i>CHEK2</i>:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinomaMy Linh Thibodeau, Caralyn Reisle, Eric Zhao, et al.
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndromeChristopher A Ours, Julie C Sapp, Mia B Hodges, et al.
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Bockenheimer disease is associated with a <i>TEK</i> variantChristopher L Sudduth, Dennis J Konczyk, Patrick J Smits, et al.
Cold Spring Harbor Molecular Case Studies|October 20, 2019
Rapid development and use of patient-specific ctDNA biomarkers to avoid a "rash decision" in an ovarian cancer patientDeep Pandya, Sandra Catalina Camacho, Maria M Padron, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancerHannah N Bell, Chandan Kumar-Sinha, Rahul Mannan, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Corrigendum: 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|January 29, 2022
Biallelic <i>SEPSECS</i> variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in diseaseSwetha Ramadesikan, Scott Hickey, Emily De Los Reyes, et al.
Cold Spring Harbor Molecular Case Studies|October 11, 2018
Detection of endometrial precancer by a targeted gynecologic cancer liquid biopsyJohn A Martignetti, Deep Pandya, Nimesh Nagarsheth, et al.
Cold Spring Harbor Molecular Case Studies|March 2, 2022
A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndromeFeng Xu, Erfan Aref-Eshghi, Jinhua Wu, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel TP53-KPNA3 translocation defines a de novo treatment-resistant clone in osteosarcomaKenneth S Chen, Woo Sun Kwon, Jiwoong Kim, et al.
Pageof 48