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 (281-290 of 479) with videos related to

Pageof 48
Sort By:
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypesSeth A Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, et al.
Cold Spring Harbor Molecular Case Studies|January 26, 2020
Functional characterization of two rare BCR-FGFR1<sup>+</sup> leukemiasEvan J Barnes, Jessica Leonard, Bruno C Medeiros, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
A novel large in-frame <i>FBN1</i> deletion causes neonatal Marfan syndromeSümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, et al.
Cold Spring Harbor Molecular Case Studies|August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failureMersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
Cold Spring Harbor Molecular Case Studies|December 8, 2017
Personalized cancer therapy-leveraging a knowledge base for clinical decision-makingEcaterina Ileana Dumbrava, Funda Meric-Bernstam
Cold Spring Harbor Molecular Case Studies|September 3, 2017
A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agentsDavid C Wilkes, Verena Sailer, Hui Xue, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Somatic uniparental disomy of Chromosome 16p in hemimegalencephalyNicole G Griffin, Kenneth D Cronin, Nicole M Walley, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
Pageof 48

Showing results (281-290 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypesSeth A Brodie, Jean Paul Rodriguez-Aulet, Neelam Giri, et al.
Cold Spring Harbor Molecular Case Studies|January 26, 2020
Functional characterization of two rare BCR-FGFR1<sup>+</sup> leukemiasEvan J Barnes, Jessica Leonard, Bruno C Medeiros, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal cloudingPaul R Mark, Stephen A Murray, Tao Yang, et al.
Cold Spring Harbor Molecular Case Studies|October 28, 2022
A novel large in-frame <i>FBN1</i> deletion causes neonatal Marfan syndromeSümeyye Elgaz, Boris Wittekindt, Anoosh Esmaeili, et al.
Cold Spring Harbor Molecular Case Studies|August 13, 2017
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failureMersedeh Rohanizadegan, Sara M Abdo, Anne O'Donnell-Luria, et al.
Cold Spring Harbor Molecular Case Studies|December 8, 2017
Personalized cancer therapy-leveraging a knowledge base for clinical decision-makingEcaterina Ileana Dumbrava, Funda Meric-Bernstam
Cold Spring Harbor Molecular Case Studies|September 3, 2017
A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agentsDavid C Wilkes, Verena Sailer, Hui Xue, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Somatic uniparental disomy of Chromosome 16p in hemimegalencephalyNicole G Griffin, Kenneth D Cronin, Nicole M Walley, et al.
Cold Spring Harbor Molecular Case Studies|October 1, 2017
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndromeCharu Kaiwar, Michael T Zimmermann, Matthew J Ferber, et al.
Pageof 48