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Cold Spring Harbor molecular case studies

Showing results (161-170 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|February 5, 2020
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)Leslie G Biesecker, Matthew Edwards, Sheridan O'Donnell, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemStephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
Cold Spring Harbor Molecular Case Studies|May 19, 2022
Identification of a novel pathogenic variant in FBN1 associated with Marfan SyndromeJulia P Pereira, Juliana R Ferreira, Anna Paula A Botelho, et al.
Cold Spring Harbor Molecular Case Studies|June 24, 2021
Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profilesSeth A Brodie, Payal P Khincha, Neelam Giri, et al.
Cold Spring Harbor Molecular Case Studies|January 11, 2018
Small-cell transformation of <i>ALK</i>-rearranged non-small-cell adenocarcinoma of the lungAgnes Balla, Farrah Khan, Kenneth J Hampel, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Concomitant diagnosis of immune deficiency and <i>Pseudomonas</i> sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencingErica Sanford, Lauge Farnaes, Serge Batalov, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic riskBrooke McKenna, Tanner Koomar, Kevin Vervier, et al.
Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
NAA10 variant in 38-week-gestation male patient: a case studyAntara Afrin, Jeremy W Prokop, Adam Underwood, et al.
Cold Spring Harbor Molecular Case Studies|February 16, 2020
RNA sequencing profiles and diagnostic signatures linked with response to ramucirumab in gastric cancerMaxim Sorokin, Elena Poddubskaya, Madina Baranova, et al.
Pageof 48

Showing results (161-170 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)Leslie G Biesecker, Matthew Edwards, Sheridan O'Donnell, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine systemStephen F Kingsmore, Nanda Ramchandar, Kiely James, et al.
Cold Spring Harbor Molecular Case Studies|May 19, 2022
Identification of a novel pathogenic variant in FBN1 associated with Marfan SyndromeJulia P Pereira, Juliana R Ferreira, Anna Paula A Botelho, et al.
Cold Spring Harbor Molecular Case Studies|June 24, 2021
Pathogenic germline <i>IKZF1</i> variant alters hematopoietic gene expression profilesSeth A Brodie, Payal P Khincha, Neelam Giri, et al.
Cold Spring Harbor Molecular Case Studies|January 11, 2018
Small-cell transformation of <i>ALK</i>-rearranged non-small-cell adenocarcinoma of the lungAgnes Balla, Farrah Khan, Kenneth J Hampel, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Concomitant diagnosis of immune deficiency and <i>Pseudomonas</i> sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencingErica Sanford, Lauge Farnaes, Serge Batalov, et al.
Cold Spring Harbor Molecular Case Studies|December 19, 2018
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic riskBrooke McKenna, Tanner Koomar, Kevin Vervier, et al.
Cold Spring Harbor Molecular Case Studies|March 18, 2018
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infectionsNathaly M Sweeney, Shareef A Nahas, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
NAA10 variant in 38-week-gestation male patient: a case studyAntara Afrin, Jeremy W Prokop, Adam Underwood, et al.
Cold Spring Harbor Molecular Case Studies|February 16, 2020
RNA sequencing profiles and diagnostic signatures linked with response to ramucirumab in gastric cancerMaxim Sorokin, Elena Poddubskaya, Madina Baranova, et al.
Pageof 48