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Thomas Arnesen

Showing results (111-120 of 116) with videos related to

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Elife|August 6, 2021
<i>Naa12</i> compensates for <i>Naa10</i> in mice in the amino-terminal acetylation pathwayHyae Yon Kweon, Mi-Ni Lee, Max Dorfel, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
Circulation Research|February 9, 2021
Mechanisms of Congenital Heart Disease Caused by NAA15 HaploinsufficiencyTarsha Ward, Warren Tai, Sarah Morton, et al.
Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 12

Showing results (111-120 of 116) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 116 results.
Elife|August 6, 2021
<i>Naa12</i> compensates for <i>Naa10</i> in mice in the amino-terminal acetylation pathwayHyae Yon Kweon, Mi-Ni Lee, Max Dorfel, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
Circulation Research|February 9, 2021
Mechanisms of Congenital Heart Disease Caused by NAA15 HaploinsufficiencyTarsha Ward, Warren Tai, Sarah Morton, et al.
Nature Communications|March 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsViorica Chelban, Henriette Aksnes, Reza Maroofian, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
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