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 (191-200 of 479) with videos related to

Pageof 48
Sort By:
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Integrated clinical, whole-genome, and transcriptome analysis of multisampled lethal metastatic prostate cancerG Steven Bova, Heini M L Kallio, Matti Annala, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Somatic variation as an incidental finding in the pediatric next-generation sequencing eraMarilena Melas, Mariam T Mathew, Mari Mori, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2021
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genesHilary A Scott, Anna Larson, Shi Song Rong, et al.
Cold Spring Harbor Molecular Case Studies|July 22, 2017
The importance of managing the patient and not the gene: expanded phenotype of <i>GLE1</i>-associated arthrogryposisQueenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Rapid whole-genome sequencing identifies a novel <i>GABRA1</i> variant associated with West syndromeLauge Farnaes, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Cold Spring Harbor Molecular Case Studies|November 24, 2017
A novel <i>PRRT2</i> pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizuresJacqueline G Lu, Juliet Bishop, Sarah Cheyette, et al.
Cold Spring Harbor Molecular Case Studies|February 16, 2018
Mutation in an alternative transcript of <i>CDKL5</i> in a boy with early-onset seizuresDale L Bodian, John M Schreiber, Thierry Vilboux, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Cold Spring Harbor Molecular Case Studies|May 26, 2018
A novel de novo <i>CDH1</i> germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decayKate Krempely, Rachid Karam
Pageof 48

Showing results (191-200 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Integrated clinical, whole-genome, and transcriptome analysis of multisampled lethal metastatic prostate cancerG Steven Bova, Heini M L Kallio, Matti Annala, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Somatic variation as an incidental finding in the pediatric next-generation sequencing eraMarilena Melas, Mariam T Mathew, Mari Mori, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2021
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genesHilary A Scott, Anna Larson, Shi Song Rong, et al.
Cold Spring Harbor Molecular Case Studies|July 22, 2017
The importance of managing the patient and not the gene: expanded phenotype of <i>GLE1</i>-associated arthrogryposisQueenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, et al.
Cold Spring Harbor Molecular Case Studies|September 3, 2017
Rapid whole-genome sequencing identifies a novel <i>GABRA1</i> variant associated with West syndromeLauge Farnaes, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|November 23, 2017
De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autismAkemi J Tanaka, Megan T Cho, Rebecca Willaert, et al.
Cold Spring Harbor Molecular Case Studies|November 24, 2017
A novel <i>PRRT2</i> pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizuresJacqueline G Lu, Juliet Bishop, Sarah Cheyette, et al.
Cold Spring Harbor Molecular Case Studies|February 16, 2018
Mutation in an alternative transcript of <i>CDKL5</i> in a boy with early-onset seizuresDale L Bodian, John M Schreiber, Thierry Vilboux, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2018
Reconciling newborn screening and a novel splice variant in <i>BTD</i> associated with partial biotinidase deficiency: a BabySeq Project case reportJaclyn B Murry, Kalotina Machini, Ozge Ceyhan-Birsoy, et al.
Cold Spring Harbor Molecular Case Studies|May 26, 2018
A novel de novo <i>CDH1</i> germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decayKate Krempely, Rachid Karam
Pageof 48