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Molecular Genetics and Metabolism
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June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 29, 2017
Cystic Fibrosis-related Liver Disease: Research Challenges and Future Perspectives
Dominique Debray, Michael R Narkewicz, Frank A J A Bodewes, et al.
HGG Advances
|
January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Thao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
The European Respiratory Journal
|
November 13, 2020
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype
Mathias Declercq, Pauline de Zeeuw, Nadine V Conchinha, et al.
Cell Reports. Medicine
|
May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation
Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, 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.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 7, 2024
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation
Mathias Declercq, Lucas Treps, Vincent Geldhof, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
September 9, 2020
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis
Darrick K Li, Muhammad Rehan Khan, Zhen Wang, et al.
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of 8
Search research articles
Search
Showing results (51-60 of 73) with videos related to
Sort By:
Page
of 8
Molecular Genetics and Metabolism
|
June 18, 2021
Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
Anna Čechová, Tomáš Honzík, Andrew C Edmondson, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 29, 2017
Cystic Fibrosis-related Liver Disease: Research Challenges and Future Perspectives
Dominique Debray, Michael R Narkewicz, Frank A J A Bodewes, et al.
HGG Advances
|
January 20, 2022
Biallelic variants in <i>MESD</i>, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
Thao T Tran, Rachel B Keller, Brecht Guillemyn, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
The European Respiratory Journal
|
November 13, 2020
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype
Mathias Declercq, Pauline de Zeeuw, Nadine V Conchinha, et al.
Cell Reports. Medicine
|
May 31, 2023
Tracer metabolomics reveals the role of aldose reductase in glycosylation
Silvia Radenkovic, Anna N Ligezka, Sneha S Mokashi, 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.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 7, 2024
Single-cell RNA sequencing of cystic fibrosis liver disease explants reveals endothelial complement activation
Mathias Declercq, Lucas Treps, Vincent Geldhof, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
September 9, 2020
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis
Darrick K Li, Muhammad Rehan Khan, Zhen Wang, et al.
Page
of 8