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Gert Matthijs

Showing results (181-190 of 199) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2016
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Cell|June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Journal of Inherited Metabolic Disease|October 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, et al.
Cell|May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew 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 defectsMaria 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 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Journal of Inherited Metabolic Disease|August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Pageof 20

Showing results (181-190 of 199) with videos related to

Sort By:
Pageof 20
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2016
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMTCurtis R Coughlin, Michael A Swanson, Kathryn Kronquist, et al.
Cell|June 13, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew P Wilson, Takfarinas Kentache, Charlotte R Althoff, et al.
Journal of Inherited Metabolic Disease|October 24, 2025
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected FemaleAlexandre Raynor, Jean-Madeleine de Sainte-Agathe, Merel A Post, et al.
Cell|May 31, 2024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesisMatthew 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 defectsMaria 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 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Journal of Inherited Metabolic Disease|June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Journal of Inherited Metabolic Disease|August 9, 2016
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomaliesEva Morava, Vera Tiemes, Christian Thiel, et al.
Pageof 20