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Matthew Bainbridge

Showing results (21-30 of 36) with videos related to

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BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
BMC Medical Genetics|June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndromeClaudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
NPJ Genomic Medicine|February 14, 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spotsYan Ding, Mallory Owen, Jennie Le, et al.
Epilepsia|March 31, 2018
SCN1A variants associated with sudden infant death syndromeCatherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
JAMA Network Open|February 9, 2023
Reclassification of the Etiology of Infant Mortality With Whole-Genome SequencingMallory J Owen, Meredith S Wright, Sergey Batalov, et al.
Science Advances|September 12, 2020
Four direct measurements of the fine-structure constant 13 billion years agoMichael R Wilczynska, John K Webb, Matthew Bainbridge, et al.
The New England Journal of Medicine|March 12, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genome Biology|September 16, 2011
The functional spectrum of low-frequency coding variationGabor T Marth, Fuli Yu, Amit R Indap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
BMC Medical Genetics|November 15, 2018
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case reportChrystal F Mavros, Catherine A Brownstein, Roshni Thyagrajan, et al.
BMC Medical Genetics|June 6, 2014
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndromeClaudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, et al.
NPJ Genomic Medicine|February 14, 2023
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spotsYan Ding, Mallory Owen, Jennie Le, et al.
Epilepsia|March 31, 2018
SCN1A variants associated with sudden infant death syndromeCatherine A Brownstein, Richard D Goldstein, Christopher H Thompson, et al.
JAMA Network Open|February 9, 2023
Reclassification of the Etiology of Infant Mortality With Whole-Genome SequencingMallory J Owen, Meredith S Wright, Sergey Batalov, et al.
Science Advances|September 12, 2020
Four direct measurements of the fine-structure constant 13 billion years agoMichael R Wilczynska, John K Webb, Matthew Bainbridge, et al.
The New England Journal of Medicine|March 12, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathyJames R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Molecular diagnostic experience of whole-exome sequencing in adult patientsJennifer E Posey, Jill A Rosenfeld, Regis A James, et al.
Genome Biology|September 16, 2011
The functional spectrum of low-frequency coding variationGabor T Marth, Fuli Yu, Amit R Indap, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayGregory M Enns, Vandana Shashi, Matthew Bainbridge, et al.
Pageof 4