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 (151-160 of 479) with videos related to

Pageof 48
Sort By:
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1Eva Leinøe, Ove Juul Nielsen, Lars Jønson, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemiaJessica N Lacy, Jacob C Ulirsch, Rachael F Grace, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Distinctly perturbed metabolic networks underlie differential tumor tissue damages induced by immune modulator β-glucan in a two-case ex vivo non-small-cell lung cancer studyTeresa W-M Fan, Marc O Warmoes, Qiushi Sun, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contracturesLaurie Beth Griffin, Frances A Farley, Anthony Antonellis, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive diseaseSarah B Pierce, Suleyman Gulsuner, Gail A Stapleton, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic typeMarjorie P David, Rajkumar Venkatramani, Dolores H Lopez-Terrada, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
Metastatic triple-negative breast cancer patient with <i>TP53</i> tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse eventsTobias Meißner, Adam Mark, Casey Williams, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an <i>STK11</i> variantChristine A Parachoniak, Andrew Rankin, Bernadette Gaffney, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigreeScott E Hickey, Daniel C Koboldt, Theresa Mihalic Mosher, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosisMelissa A Wilk, Andrew T Braun, Philip M Farrell, et al.
Pageof 48

Showing results (151-160 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1Eva Leinøe, Ove Juul Nielsen, Lars Jønson, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemiaJessica N Lacy, Jacob C Ulirsch, Rachael F Grace, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Distinctly perturbed metabolic networks underlie differential tumor tissue damages induced by immune modulator β-glucan in a two-case ex vivo non-small-cell lung cancer studyTeresa W-M Fan, Marc O Warmoes, Qiushi Sun, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contracturesLaurie Beth Griffin, Frances A Farley, Anthony Antonellis, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive diseaseSarah B Pierce, Suleyman Gulsuner, Gail A Stapleton, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic typeMarjorie P David, Rajkumar Venkatramani, Dolores H Lopez-Terrada, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
Metastatic triple-negative breast cancer patient with <i>TP53</i> tumor mutation experienced 11 months progression-free survival on bortezomib monotherapy without adverse events after ending standard treatments with grade 3 adverse eventsTobias Meißner, Adam Mark, Casey Williams, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Exceptional durable response to everolimus in a patient with biphenotypic breast cancer harboring an <i>STK11</i> variantChristine A Parachoniak, Andrew Rankin, Bernadette Gaffney, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Novel in-frame <i>FLNB</i> deletion causes Larsen syndrome in a three-generation pedigreeScott E Hickey, Daniel C Koboldt, Theresa Mihalic Mosher, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosisMelissa A Wilk, Andrew T Braun, Philip M Farrell, et al.
Pageof 48