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 (451-460 of 479) with videos related to

Pageof 48
Sort By:
Cold Spring Harbor Molecular Case Studies|February 14, 2018
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbanceSiren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, et al.
Cold Spring Harbor Molecular Case Studies|January 19, 2019
Personalized prescription of imatinib in recurrent granulosa cell tumor of the ovary: case reportElena V Poddubskaya, Madina P Baranova, Daria O Allina, et al.
Cold Spring Harbor Molecular Case Studies|March 28, 2018
Transmission of a <i>TP53</i> germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partnerJennifer A Cotter, Linda Szymanski, Catherine Karimov, et al.
Cold Spring Harbor Molecular Case Studies|March 29, 2018
Comprehensive genomic profiling aids in treatment of a metastatic endometrial cancerJatinder Dhami, Kim M Hirshfield, Shridar Ganesan, et al.
Cold Spring Harbor Molecular Case Studies|June 20, 2023
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of careAlexis D Levine, Wendy K Chung
Cold Spring Harbor Molecular Case Studies|June 12, 2023
Contributions of rare and common variation to early-onset and atypical dementia riskCarter A Wright, Jared W Taylor, Meagan Cochran, et al.
Cold Spring Harbor Molecular Case Studies|December 11, 2021
Novel <i>PAX6</i> variant in a family with ophthalmologic, pancreatic, and olfactory featuresKristen L Buehne, Sarah Hart, Bradley Williams, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Homozygous inactivation of <i>CHEK2</i> is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organsYoji Kukita, Jiro Okami, Noriko Yoneda-Kato, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with <i>PDL1</i> amplificationStefan Gröschel, Martin Bommer, Barbara Hutter, et al.
Cold Spring Harbor Molecular Case Studies|November 18, 2018
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinomaJenny J Ko, Jasleen K Grewal, Tony Ng, et al.
Pageof 48

Showing results (451-460 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|February 14, 2018
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbanceSiren Berland, Trine L Toft-Bertelsen, Ingvild Aukrust, et al.
Cold Spring Harbor Molecular Case Studies|January 19, 2019
Personalized prescription of imatinib in recurrent granulosa cell tumor of the ovary: case reportElena V Poddubskaya, Madina P Baranova, Daria O Allina, et al.
Cold Spring Harbor Molecular Case Studies|March 28, 2018
Transmission of a <i>TP53</i> germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partnerJennifer A Cotter, Linda Szymanski, Catherine Karimov, et al.
Cold Spring Harbor Molecular Case Studies|March 29, 2018
Comprehensive genomic profiling aids in treatment of a metastatic endometrial cancerJatinder Dhami, Kim M Hirshfield, Shridar Ganesan, et al.
Cold Spring Harbor Molecular Case Studies|June 20, 2023
Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of careAlexis D Levine, Wendy K Chung
Cold Spring Harbor Molecular Case Studies|June 12, 2023
Contributions of rare and common variation to early-onset and atypical dementia riskCarter A Wright, Jared W Taylor, Meagan Cochran, et al.
Cold Spring Harbor Molecular Case Studies|December 11, 2021
Novel <i>PAX6</i> variant in a family with ophthalmologic, pancreatic, and olfactory featuresKristen L Buehne, Sarah Hart, Bradley Williams, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Homozygous inactivation of <i>CHEK2</i> is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organsYoji Kukita, Jiro Okami, Noriko Yoneda-Kato, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with <i>PDL1</i> amplificationStefan Gröschel, Martin Bommer, Barbara Hutter, et al.
Cold Spring Harbor Molecular Case Studies|November 18, 2018
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinomaJenny J Ko, Jasleen K Grewal, Tony Ng, et al.
Pageof 48