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American Journal of Human Genetics
|
November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
Cigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Genes and Immunity
|
November 17, 2025
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency
Megan M Dobrose, Meltem Ece Kars, Jareb J Perez-Caraballo, et al.
Nature Genetics
|
July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Eric M Scott, Anason Halees, Yuval Itan, et al.
Nature Methods
|
January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictions
Yuval Itan, Lei Shang, Bertrand Boisson, et al.
American Journal of Human Genetics
|
May 20, 2021
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity
Peng Zhang, Aurélie Cobat, Yoon-Seung Lee, et al.
The Journal of Experimental Medicine
|
January 9, 2026
Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
The Journal of Experimental Medicine
|
August 27, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
Molecular Biology and Evolution
|
August 13, 2011
Herders of Indian and European cattle share their predominant allele for lactase persistence
Irene Gallego Romero, Chandana Basu Mallick, Anke Liebert, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 24, 2021
The genetic structure of the Turkish population reveals high levels of variation and admixture
M Ece Kars, A Nazlı Başak, O Emre Onat, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 23, 2024
Dominant negative <i>ADA2</i> mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
Page
of 12
Search research articles
Search
Showing results (51-60 of 116) with videos related to
Sort By:
Page
of 12
American Journal of Human Genetics
|
November 11, 2021
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
Cigdem Sevim Bayrak, David Stein, Aayushee Jain, et al.
Genes and Immunity
|
November 17, 2025
Molecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency
Megan M Dobrose, Meltem Ece Kars, Jareb J Perez-Caraballo, et al.
Nature Genetics
|
July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Eric M Scott, Anason Halees, Yuval Itan, et al.
Nature Methods
|
January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictions
Yuval Itan, Lei Shang, Bertrand Boisson, et al.
American Journal of Human Genetics
|
May 20, 2021
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity
Peng Zhang, Aurélie Cobat, Yoon-Seung Lee, et al.
The Journal of Experimental Medicine
|
January 9, 2026
Correction: Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
The Journal of Experimental Medicine
|
August 27, 2025
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
Molecular Biology and Evolution
|
August 13, 2011
Herders of Indian and European cattle share their predominant allele for lactase persistence
Irene Gallego Romero, Chandana Basu Mallick, Anke Liebert, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 24, 2021
The genetic structure of the Turkish population reveals high levels of variation and admixture
M Ece Kars, A Nazlı Başak, O Emre Onat, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 23, 2024
Dominant negative <i>ADA2</i> mutations cause ADA2 deficiency in heterozygous carriers
Marjon Wouters, Lisa Ehlers, Wout Van Eynde, et al.
Page
of 12