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Stephen F Kingsmore

Showing results (81-90 of 171) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 10, 2025
Long-term follow-up of children who received rapid genomic sequencingErica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, et al.
Genomics|September 5, 2013
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencingDarrell L Dinwiddie, Julia M Bracken, Julie A Bass, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
Molecular Medicine (Cambridge, Mass.)|May 2, 2002
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteinsVelizar T Tchernev, Traci A Mansfield, Loic Giot, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastomaMari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
BMJ Open|November 14, 2025
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trialRebecca Reimers, Miranda Bailey, Chester Brown, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Comprehensive human genome amplification using multiple displacement amplificationFrank B Dean, Seiyu Hosono, Linhua Fang, et al.
Circulation. Genomic and Precision Medicine|August 28, 2020
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular DiseaseZahra Aryan, Attila Szanto, Angeliki Pantazi, et al.
Pageof 18

Showing results (81-90 of 171) with videos related to

Sort By:
Pageof 18
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 10, 2025
Long-term follow-up of children who received rapid genomic sequencingErica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, et al.
Genomics|September 5, 2013
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencingDarrell L Dinwiddie, Julia M Bracken, Julie A Bass, et al.
BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.
Molecular Medicine (Cambridge, Mass.)|May 2, 2002
The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteinsVelizar T Tchernev, Traci A Mansfield, Loic Giot, et al.
Cold Spring Harbor Molecular Case Studies|October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastomaMari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
NPJ Genomic Medicine|June 12, 2025
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admissionBennet Peterson, Edwin F Juarez, Barry Moore, et al.
BMJ Open|November 14, 2025
Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trialRebecca Reimers, Miranda Bailey, Chester Brown, et al.
Human Mutation|December 17, 2014
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouseCarol J Saunders, Sung Ho Moon, Xinping Liu, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Comprehensive human genome amplification using multiple displacement amplificationFrank B Dean, Seiyu Hosono, Linhua Fang, et al.
Circulation. Genomic and Precision Medicine|August 28, 2020
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular DiseaseZahra Aryan, Attila Szanto, Angeliki Pantazi, et al.
Pageof 18