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Stephen F Kingsmore

Showing results (41-50 of 171) with videos related to

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NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
The American Journal of Gastroenterology|January 26, 2005
Protein microarray analysis of disease activity in pediatric inflammatory bowel disease demonstrates elevated serum PLGF, IL-7, TGF-beta1, and IL-12p40 levels in Crohn's disease and ulcerative colitis patients in remission versus active diseaseHoward A Kader, Velizar T Tchernev, Ebenezer Satyaraj, et al.
Methods in Molecular Biology (Clifton, N.J.)|April 11, 2023
Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill ChildrenMallory J Owen, Sergey Batalov, Katarzyna A Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
The Journal of Applied Laboratory Medicine|April 18, 2025
Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer SystemChristy Moore, Madison Arenchild, Bryce Waldman, 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|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.
Genome Medicine|March 31, 2012
Next-generation community genetics for low- and middle-income countriesStephen F Kingsmore, John D Lantos, Darrell L Dinwiddie, et al.
BMC Medical Genomics|September 19, 2013
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomaliesDarrell L Dinwiddie, Sarah E Soden, Carol J Saunders, et al.
Life Science Alliance|May 22, 2024
Novel variants in <i>TECRL</i> leading to catecholaminergic polymorphic ventricular tachycardiaDouglas Jones, Jacob Hartung, Elizabeth Lasalle, et al.
Pageof 18

Showing results (41-50 of 171) with videos related to

Sort By:
Pageof 18
NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
The American Journal of Gastroenterology|January 26, 2005
Protein microarray analysis of disease activity in pediatric inflammatory bowel disease demonstrates elevated serum PLGF, IL-7, TGF-beta1, and IL-12p40 levels in Crohn's disease and ulcerative colitis patients in remission versus active diseaseHoward A Kader, Velizar T Tchernev, Ebenezer Satyaraj, et al.
Methods in Molecular Biology (Clifton, N.J.)|April 11, 2023
Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill ChildrenMallory J Owen, Sergey Batalov, Katarzyna A Ellsworth, et al.
Cold Spring Harbor Molecular Case Studies|October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysisErica Sanford, Marilyn C Jones, Matthew Brigger, et al.
The Journal of Applied Laboratory Medicine|April 18, 2025
Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer SystemChristy Moore, Madison Arenchild, Bryce Waldman, 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|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.
Genome Medicine|March 31, 2012
Next-generation community genetics for low- and middle-income countriesStephen F Kingsmore, John D Lantos, Darrell L Dinwiddie, et al.
BMC Medical Genomics|September 19, 2013
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomaliesDarrell L Dinwiddie, Sarah E Soden, Carol J Saunders, et al.
Life Science Alliance|May 22, 2024
Novel variants in <i>TECRL</i> leading to catecholaminergic polymorphic ventricular tachycardiaDouglas Jones, Jacob Hartung, Elizabeth Lasalle, et al.
Pageof 18