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Showing results (431-440 of 483) with videos related to

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Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Communications Biology|March 20, 2021
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolismRianne E van Outersterp, Sam J Moons, Udo F H Engelke, et al.
International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
Pageof 49

Showing results (431-440 of 483) with videos related to

Sort By:
Pageof 49
Human Genetics|July 10, 2012
Further characterization of ATP6V0A2-related autosomal recessive cutis laxaBjörn Fischer, Aikaterini Dimopoulou, Johannes Egerer, et al.
Plos Genetics|January 14, 2012
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk J Lefeber, Arjan P M de Brouwer, Eva Morava, et al.
Communications Biology|March 20, 2021
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolismRianne E van Outersterp, Sam J Moons, Udo F H Engelke, et al.
International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease|July 17, 2023
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspectiveTessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variantsRobin Wijngaard, Caspar I van der Made, Sema Kalkan Uçar, et al.
Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
Pageof 49