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Plos One
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September 9, 2010
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci
Steven E Boyden, Louis M Kunkel
The New England Journal of Medicine
|
July 14, 2016
Vibratory Urticaria and ADGRE2
Steven 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 GNE
Steven 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 sequencing
Jian 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-ADGRE2
Andrea 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 azoospermia
Albert 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 azoospermia
Albert 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 2
Satomi 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 oxygenation
Nicholas 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 sequencing
Ting Wen, Steven E Boyden, Caleb M Hocutt, et al.
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Search research articles
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Showing results (1-10 of 23) with videos related to
Sort By:
Page
of 3
Plos One
|
September 9, 2010
High-density genomewide linkage analysis of exceptional human longevity identifies multiple novel loci
Steven E Boyden, Louis M Kunkel
The New England Journal of Medicine
|
July 14, 2016
Vibratory Urticaria and ADGRE2
Steven 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 GNE
Steven 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 sequencing
Jian 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-ADGRE2
Andrea 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 azoospermia
Albert 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 azoospermia
Albert 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 2
Satomi 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 oxygenation
Nicholas 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 sequencing
Ting Wen, Steven E Boyden, Caleb M Hocutt, et al.
Page
of 3