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Steven E Boyden

Showing results (1-10 of 23) with videos related to

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Plos One|September 9, 2010
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel lociSteven E Boyden, Louis M Kunkel
The New England Journal of Medicine|July 14, 2016
Vibratory Urticaria and ADGRE2Steven E Boyden, Dean D Metcalfe, Hirsh D Komarow
BMC Medical Genetics|June 29, 2011
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNESteven E Boyden, Anna R Duncan, Elicia A Estrella, et al.
American Journal of Medical Genetics. Part A|January 3, 2024
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencingJian Zhao, Nicola Longo, Robert G Lewis, et al.
The Journal of Investigative Dermatology|March 31, 2020
Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2Andrea N Naranjo, Geethani Bandara, Yun Bai, et al.
Human Genetics|November 19, 2020
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermiaAlbert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al.
Human Genetics|December 30, 2020
Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermiaAlbert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|May 28, 2026
Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenationNicholas R Carr, Makenzie L Fulmer, Jennifer Rumpel, et al.
Blood Advances|March 3, 2025
Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencingTing Wen, Steven E Boyden, Caleb M Hocutt, et al.
Pageof 3

Showing results (1-10 of 23) with videos related to

Sort By:
Pageof 3
Plos One|September 9, 2010
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel lociSteven E Boyden, Louis M Kunkel
The New England Journal of Medicine|July 14, 2016
Vibratory Urticaria and ADGRE2Steven E Boyden, Dean D Metcalfe, Hirsh D Komarow
BMC Medical Genetics|June 29, 2011
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNESteven E Boyden, Anna R Duncan, Elicia A Estrella, et al.
American Journal of Medical Genetics. Part A|January 3, 2024
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencingJian Zhao, Nicola Longo, Robert G Lewis, et al.
The Journal of Investigative Dermatology|March 31, 2020
Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2Andrea N Naranjo, Geethani Bandara, Yun Bai, et al.
Human Genetics|November 19, 2020
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermiaAlbert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al.
Human Genetics|December 30, 2020
Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermiaAlbert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al.
Neuromuscular Disorders : NMD|October 17, 2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|May 28, 2026
Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenationNicholas R Carr, Makenzie L Fulmer, Jennifer Rumpel, et al.
Blood Advances|March 3, 2025
Identification of 2 novel noncoding variants in patients with Diamond-Blackfan anemia syndrome by whole genome sequencingTing Wen, Steven E Boyden, Caleb M Hocutt, et al.
Pageof 3