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Human Mutation
|
January 12, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Mirjam M C Wamelink, Eduard A Struys, Erwin E W Jansen, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Oligosaccharide excretion in adult Gaucher disease
J G de Jong, J M Aerts, S van Weely, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
May 22, 2020
Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics
Nikolaos G Bliziotis, Udo F H Engelke, Ruud L E G Aspers, et al.
Communications Chemistry
|
February 15, 2024
A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect
Lara van Tetering, Sylvia Spies, Quirine D K Wildeman, et al.
Nature Immunology
|
December 1, 2022
Fungal sensing by dectin-1 directs the non-pathogenic polarization of T<sub>H</sub>17 cells through balanced type I IFN responses in human DCs
Sonja I Gringhuis, Tanja M Kaptein, Ester B M Remmerswaal, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 18, 2013
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene
Cathérine C S Delnooz, Ron A Wevers, Marialuisa Quadri, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylation
Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism
|
March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed management
Miski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.
Molecular Genetics and Metabolism
|
May 27, 2008
Two Greek siblings with sepiapterin reductase deficiency
Marcel M Verbeek, Michel A A P Willemsen, Ron A Wevers, et al.
Page
of 55
Search research articles
Search
Showing results (321-330 of 543) with videos related to
Sort By:
Page
of 55
Human Mutation
|
January 12, 2008
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Mirjam M C Wamelink, Eduard A Struys, Erwin E W Jansen, et al.
Journal of Inherited Metabolic Disease
|
March 21, 1998
Oligosaccharide excretion in adult Gaucher disease
J G de Jong, J M Aerts, S van Weely, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
May 22, 2020
Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics
Nikolaos G Bliziotis, Udo F H Engelke, Ruud L E G Aspers, et al.
Communications Chemistry
|
February 15, 2024
A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect
Lara van Tetering, Sylvia Spies, Quirine D K Wildeman, et al.
Nature Immunology
|
December 1, 2022
Fungal sensing by dectin-1 directs the non-pathogenic polarization of T<sub>H</sub>17 cells through balanced type I IFN responses in human DCs
Sonja I Gringhuis, Tanja M Kaptein, Ester B M Remmerswaal, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 18, 2013
Phenotypic variability in a dystonia family with mutations in the manganese transporter gene
Cathérine C S Delnooz, Ron A Wevers, Marialuisa Quadri, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
American Journal of Medical Genetics. Part A
|
February 13, 2013
Perinatal and early infantile symptoms in congenital disorders of glycosylation
Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, et al.
Molecular Genetics and Metabolism
|
March 6, 2012
Thyroid function in PMM2-CDG: diagnostic approach and proposed management
Miski Mohamed, Miranda Theodore, Hedi Claahsen-van der Grinten, et al.
Molecular Genetics and Metabolism
|
May 27, 2008
Two Greek siblings with sepiapterin reductase deficiency
Marcel M Verbeek, Michel A A P Willemsen, Ron A Wevers, et al.
Page
of 55