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Proceedings of the National Academy of Sciences of the United States of America
|
May 1, 2019
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype
Eline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.
Clinical Genetics
|
June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Plos Genetics
|
December 19, 2013
MAN1B1 deficiency: an unexpected CDG-II
Daisy Rymen, Romain Peanne, María B Millón, et al.
Molecular Genetics and Metabolism
|
August 12, 2015
Key features and clinical variability of COG6-CDG
Daisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
Journal of Inherited Metabolic Disease
|
August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Daisy Rymen, Martijn Lindhout, Maria Spanou, et al.
NPJ Systems Biology and Applications
|
April 25, 2026
The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in disease
Mainak Guharoy, Isabelle Adant, Matthew Bird, et al.
Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 43) with videos related to
Sort By:
Page
of 5
Proceedings of the National Academy of Sciences of the United States of America
|
May 1, 2019
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype
Eline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.
Clinical Genetics
|
June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Plos Genetics
|
December 19, 2013
MAN1B1 deficiency: an unexpected CDG-II
Daisy Rymen, Romain Peanne, María B Millón, et al.
Molecular Genetics and Metabolism
|
August 12, 2015
Key features and clinical variability of COG6-CDG
Daisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
Journal of Inherited Metabolic Disease
|
August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Daisy Rymen, Martijn Lindhout, Maria Spanou, et al.
NPJ Systems Biology and Applications
|
April 25, 2026
The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in disease
Mainak Guharoy, Isabelle Adant, Matthew Bird, et al.
Journal of Inherited Metabolic Disease
|
December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
Veronika Holubova, Rita Barone, Stephanie Grunewald, et al.
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of 5