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Human Molecular Genetics
|
April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Yaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
CMAJ Open
|
October 13, 2021
SARS-CoV-2 antibodies in Ontario health care workers during and after the first wave of the pandemic: a cohort study
Michelle Science, Shelly Bolotin, Michael Silverman, et al.
Nature Communications
|
November 27, 2025
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes
Antonio Mollica, Safia Omer, Georgiana Forguson, et al.
Science (New York, N.Y.)
|
April 8, 2006
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
Jennifer P Habashi, Daniel P Judge, Tammy M Holm, et al.
NPJ Genomic Medicine
|
July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Huayun Hou, Kyoko E Yuki, Gregory Costain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 8, 2012
A critical role for muscle ring finger-1 in acute lung injury-associated skeletal muscle wasting
D Clark Files, Franco R D'Alessio, Laura F Johnston, et al.
EMBO Molecular Medicine
|
November 20, 2012
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy
Eva Andres-Mateos, Heinrich Brinkmeier, Tyesha N Burks, et al.
JAMA Network Open
|
September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Gregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 100) with videos related to
Sort By:
Page
of 10
Human Molecular Genetics
|
April 19, 2017
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
Yaqun Zou, Sandra Donkervoort, Antti M Salo, et al.
CMAJ Open
|
October 13, 2021
SARS-CoV-2 antibodies in Ontario health care workers during and after the first wave of the pandemic: a cohort study
Michelle Science, Shelly Bolotin, Michael Silverman, et al.
Nature Communications
|
November 27, 2025
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes
Antonio Mollica, Safia Omer, Georgiana Forguson, et al.
Science (New York, N.Y.)
|
April 8, 2006
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome
Jennifer P Habashi, Daniel P Judge, Tammy M Holm, et al.
NPJ Genomic Medicine
|
July 2, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Huayun Hou, Kyoko E Yuki, Gregory Costain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 29, 2020
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco Del Caño-Ochoa, Bobby G Ng, Malak Abedalthagafi, et al.
American Journal of Respiratory and Critical Care Medicine
|
February 8, 2012
A critical role for muscle ring finger-1 in acute lung injury-associated skeletal muscle wasting
D Clark Files, Franco R D'Alessio, Laura F Johnston, et al.
EMBO Molecular Medicine
|
November 20, 2012
Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy
Eva Andres-Mateos, Heinrich Brinkmeier, Tyesha N Burks, et al.
JAMA Network Open
|
September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
Gregory Costain, Susan Walker, Maria Marano, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
Page
of 10