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Stephen F Kingsmore

Showing results (61-70 of 171) with videos related to

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NPJ Genomic Medicine|November 6, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencingStephen F Kingsmore, Audrey Henderson, Mallory J Owen, et al.
American Journal of Human Genetics|November 6, 2020
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill InfantsJulie A Cakici, David P Dimmock, Sara A Caylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2023
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterationsKiely N James, Shimul Chowdhury, Yan Ding, et al.
Neonatology|June 27, 2015
Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm ChildrenHanna Kallankari, Johanna M Huusko, Tuula Kaukola, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Cold Spring Harbor Molecular Case Studies|June 15, 2019
Neonatal diabetes mellitus due to a novel variant in the <i>INS</i> geneSarah E Laurenzano, Cory McFall, Linda Nguyen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic EvaluationTara A Lavelle, Jill L Maron, Stephen F Kingsmore, et al.
The Journal of Pediatrics|November 2, 2025
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic EvaluationTara A Lavelle, Jill L Maron, Stephen F Kingsmore, et al.
Genomics|May 2, 2013
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genomeDarrell L Dinwiddie, Laurie D Smith, Neil A Miller, et al.
Nature Biotechnology|March 30, 2002
Multiplexed protein profiling on microarrays by rolling-circle amplificationBarry Schweitzer, Scott Roberts, Brian Grimwade, et al.
Pageof 18

Showing results (61-70 of 171) with videos related to

Sort By:
Pageof 18
NPJ Genomic Medicine|November 6, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencingStephen F Kingsmore, Audrey Henderson, Mallory J Owen, et al.
American Journal of Human Genetics|November 6, 2020
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill InfantsJulie A Cakici, David P Dimmock, Sara A Caylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2023
Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterationsKiely N James, Shimul Chowdhury, Yan Ding, et al.
Neonatology|June 27, 2015
Cerebral Palsy and Polymorphism of the Chemokine CCL18 in Very Preterm ChildrenHanna Kallankari, Johanna M Huusko, Tuula Kaukola, et al.
American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.
Cold Spring Harbor Molecular Case Studies|June 15, 2019
Neonatal diabetes mellitus due to a novel variant in the <i>INS</i> geneSarah E Laurenzano, Cory McFall, Linda Nguyen, et al.
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic EvaluationTara A Lavelle, Jill L Maron, Stephen F Kingsmore, et al.
The Journal of Pediatrics|November 2, 2025
Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic EvaluationTara A Lavelle, Jill L Maron, Stephen F Kingsmore, et al.
Genomics|May 2, 2013
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genomeDarrell L Dinwiddie, Laurie D Smith, Neil A Miller, et al.
Nature Biotechnology|March 30, 2002
Multiplexed protein profiling on microarrays by rolling-circle amplificationBarry Schweitzer, Scott Roberts, Brian Grimwade, et al.
Pageof 18