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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Molecular Pharmacology
|
August 27, 1999
Identification, molecular cloning, expression, and characterization of a cysteinyl leukotriene receptor
H M Sarau, R S Ames, J Chambers, et al.
Human Mutation
|
September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
The Journal of Biological Chemistry
|
June 14, 2000
Receptor for the pain modulatory neuropeptides FF and AF is an orphan G protein-coupled receptor
N A Elshourbagy, R S Ames, L R Fitzgerald, et al.
NPJ Genomic Medicine
|
April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
The Journal of Biological Chemistry
|
December 24, 2002
The orphan G protein-coupled receptor GPR40 is activated by medium and long chain fatty acids
Celia P Briscoe, Mohammad Tadayyon, John L Andrews, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
The Journal of Biological Chemistry
|
December 24, 2002
The Orphan G protein-coupled receptors GPR41 and GPR43 are activated by propionate and other short chain carboxylic acids
Andrew J Brown, Susan M Goldsworthy, Ashley A Barnes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
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of 13
Search research articles
Search
Showing results (101-110 of 123) with videos related to
Sort By:
Page
of 13
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2021
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, et al.
Molecular Pharmacology
|
August 27, 1999
Identification, molecular cloning, expression, and characterization of a cysteinyl leukotriene receptor
H M Sarau, R S Ames, J Chambers, et al.
Human Mutation
|
September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism
Varuna Chander, Medhat Mahmoud, Jianhong Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
The Journal of Biological Chemistry
|
June 14, 2000
Receptor for the pain modulatory neuropeptides FF and AF is an orphan G protein-coupled receptor
N A Elshourbagy, R S Ames, L R Fitzgerald, et al.
NPJ Genomic Medicine
|
April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
The Journal of Biological Chemistry
|
December 24, 2002
The orphan G protein-coupled receptor GPR40 is activated by medium and long chain fatty acids
Celia P Briscoe, Mohammad Tadayyon, John L Andrews, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
The Journal of Biological Chemistry
|
December 24, 2002
The Orphan G protein-coupled receptors GPR41 and GPR43 are activated by propionate and other short chain carboxylic acids
Andrew J Brown, Susan M Goldsworthy, Ashley A Barnes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 1, 2025
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies
Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, et al.
Page
of 13