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Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
David R Murdock, Eric Venner, Donna M Muzny, et al.
The New England Journal of Medicine
|
May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome
Hratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics
|
August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay C Burrage, Rossella Venditti, et al.
The Journal of Experimental Medicine
|
June 10, 2020
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Vivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.
The Journal of Experimental Medicine
|
March 25, 2020
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Vivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.
Circulation
|
February 6, 2026
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
Sébastien Thériault, Jacob A Holdcraft, Dinara Sharipova, et al.
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of 5
Search research articles
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Showing results (41-50 of 48) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 48 results.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
David R Murdock, Eric Venner, Donna M Muzny, et al.
The New England Journal of Medicine
|
May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome
Hratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics
|
August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay C Burrage, Rossella Venditti, et al.
The Journal of Experimental Medicine
|
June 10, 2020
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Vivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.
The Journal of Experimental Medicine
|
March 25, 2020
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
Vivien Béziat, Simon J Tavernier, Yin-Huai Chen, et al.
Circulation
|
February 6, 2026
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
Sébastien Thériault, Jacob A Holdcraft, Dinara Sharipova, et al.
Page
of 5