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Neurogenetics
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August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Annals of Neurology
|
May 10, 2016
Whole exome sequencing in patients with white matter abnormalities
Adeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology
|
April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
Adeline Vanderver, Geneviève Bernard, Guy Helman, et al.
European Journal of Medical Genetics
|
July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C A Stutterd, A Vanderver, P J Lockhart, et al.
Clinical Science (London, England : 1979)
|
August 22, 2014
Glycaemic regulation and insulin secretion are abnormal in cystic fibrosis pigs despite sparing of islet cell mass
Aliye Uc, Alicia K Olivier, Michelle A Griffin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment test
Laura M Amendola, Alison J Coffey, Josh Lowry, et al.
Genetics in Medicine Open
|
January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment test
Laura M Amendola, Alison J Coffey, Josh Lowry, et al.
Science (New York, N.Y.)
|
September 27, 2008
Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs
Christopher S Rogers, David A Stoltz, David K Meyerholz, et al.
Science Translational Medicine
|
March 18, 2011
The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs
Lynda S Ostedgaard, David K Meyerholz, Jeng-Haur Chen, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2020
Genome sequencing in persistently unsolved white matter disorders
Guy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Page
of 32
Search research articles
Search
Showing results (291-300 of 318) with videos related to
Sort By:
Page
of 32
Neurogenetics
|
August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.
Annals of Neurology
|
May 10, 2016
Whole exome sequencing in patients with white matter abnormalities
Adeline Vanderver, Cas Simons, Guy Helman, et al.
Annals of Neurology
|
April 29, 2020
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
Adeline Vanderver, Geneviève Bernard, Guy Helman, et al.
European Journal of Medical Genetics
|
July 8, 2022
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services
C A Stutterd, A Vanderver, P J Lockhart, et al.
Clinical Science (London, England : 1979)
|
August 22, 2014
Glycaemic regulation and insulin secretion are abnormal in cystic fibrosis pigs despite sparing of islet cell mass
Aliye Uc, Alicia K Olivier, Michelle A Griffin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 20, 2024
Development of a comprehensive cardiovascular disease genetic risk assessment test
Laura M Amendola, Alison J Coffey, Josh Lowry, et al.
Genetics in Medicine Open
|
January 19, 2026
Development of a comprehensive cardiovascular disease genetic risk assessment test
Laura M Amendola, Alison J Coffey, Josh Lowry, et al.
Science (New York, N.Y.)
|
September 27, 2008
Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs
Christopher S Rogers, David A Stoltz, David K Meyerholz, et al.
Science Translational Medicine
|
March 18, 2011
The ΔF508 mutation causes CFTR misprocessing and cystic fibrosis-like disease in pigs
Lynda S Ostedgaard, David K Meyerholz, Jeng-Haur Chen, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2020
Genome sequencing in persistently unsolved white matter disorders
Guy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Page
of 32