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The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Cell
|
June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Cell
|
May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
The Journal of Experimental Medicine
|
November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
The Journal of Clinical Investigation
|
January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Selket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, 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.
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of 5
Search research articles
Search
Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
The Journal of Pediatrics
|
May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
Cell
|
June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Cell
|
May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
Matthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
The Journal of Experimental Medicine
|
November 12, 2017
Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects
Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
The Journal of Clinical Investigation
|
January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Selket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
Journal of Inherited Metabolic Disease
|
July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
Molecular Genetics and Metabolism
|
July 27, 2025
Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study
Sebastian Roesch, Anna O'Sullivan, Stefan Tschani, et al.
American Journal of Human Genetics
|
June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Margot A Cousin, Erin Conboy, Jian-She Wang, 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.
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of 5