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Annals of Neurology
|
April 30, 2014
Mutations in RARS cause hypomyelination
Nicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2014
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Laurie M Brown, Michelle M Corrado, Rixt M van der Ende, et al.
Archives of Toxicology
|
January 7, 2014
In vivo murine hepatic microRNA and mRNA expression signatures predicting the (non-)genotoxic carcinogenic potential of chemicals
Joost P M Melis, Kasper W J Derks, Tessa E Pronk, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Willemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
RNA Biology
|
April 1, 2015
Deciphering the RNA landscape by RNAome sequencing
Kasper W J Derks, Branislav Misovic, Mirjam C G N van den Hout, et al.
International Journal of Neonatal Screening
|
July 25, 2023
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
Allysa M Dijkstra, Pim de Blaauw, Willemijn J van Rijt, et al.
Cell Reports
|
May 24, 2016
Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease
Sara Sepe, Chiara Milanese, Sylvia Gabriels, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2025
iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency
Ligia A Kiyuna, José M Horcas-Nieto, Christoff Odendaal, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
Emmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
Blood
|
April 16, 2020
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Saskia B Wortmann, Johan L K Van Hove, Terry G J Derks, et al.
Page
of 17
Search research articles
Search
Showing results (111-120 of 167) with videos related to
Sort By:
Page
of 17
Annals of Neurology
|
April 30, 2014
Mutations in RARS cause hypomyelination
Nicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
July 30, 2014
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children
Laurie M Brown, Michelle M Corrado, Rixt M van der Ende, et al.
Archives of Toxicology
|
January 7, 2014
In vivo murine hepatic microRNA and mRNA expression signatures predicting the (non-)genotoxic carcinogenic potential of chemicals
Joost P M Melis, Kasper W J Derks, Tessa E Pronk, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Willemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
RNA Biology
|
April 1, 2015
Deciphering the RNA landscape by RNAome sequencing
Kasper W J Derks, Branislav Misovic, Mirjam C G N van den Hout, et al.
International Journal of Neonatal Screening
|
July 25, 2023
Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots
Allysa M Dijkstra, Pim de Blaauw, Willemijn J van Rijt, et al.
Cell Reports
|
May 24, 2016
Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease
Sara Sepe, Chiara Milanese, Sylvia Gabriels, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2025
iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency
Ligia A Kiyuna, José M Horcas-Nieto, Christoff Odendaal, et al.
Journal of Inherited Metabolic Disease
|
April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands
Emmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
Blood
|
April 16, 2020
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Saskia B Wortmann, Johan L K Van Hove, Terry G J Derks, et al.
Page
of 17