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Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Nature Communications
|
May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Eric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics
|
October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics
|
February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
Jos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Human Molecular Genetics
|
June 8, 2018
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Angel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, et al.
Nature Genetics
|
May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
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of 4
Search research articles
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Showing results (31-40 of 36) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 36 results.
Journal of Inherited Metabolic Disease
|
February 13, 2019
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
Mari-Anne Vals, Angel Ashikov, Pilvi Ilves, et al.
Nature Communications
|
May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Eric J R Jansen, Sharita Timal, Margret Ryan, et al.
American Journal of Human Genetics
|
October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Matthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.
American Journal of Human Genetics
|
February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
Jos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
Human Molecular Genetics
|
June 8, 2018
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Angel Ashikov, Nurulamin Abu Bakar, Xiao-Yan Wen, et al.
Nature Genetics
|
May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Clara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.
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of 4