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Cellular and Molecular Life Sciences : CMLS
|
May 20, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Giovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, et al.
NPJ Genomic Medicine
|
July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes
Emma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Molecular Genetics and Metabolism
|
March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
Saikat Santra, Jessie M Cameron, Casper Shyr, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2012
Sjögren-Larsson syndrome in clinical practice
Joris Fuijkschot, Thomas Theelen, Marieke M B Seyger, et al.
Neurology
|
December 12, 2018
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, et al.
Human Mutation
|
January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value
R G Boot, C E Hollak, M Verhoek, et al.
Plos One
|
September 26, 2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Eveline J Langereis, Tom Wagemans, Wim Kulik, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Mailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
The European Journal of Neuroscience
|
June 26, 1999
Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer's disease: histotopographical correlation with amyloid plaques and hyperphosphorylated-tau protein
A Wevers, L Monteggia, S Nowacki, et al.
Nature Communications
|
October 4, 2014
Fucose-based PAMPs prime dendritic cells for follicular T helper cell polarization via DC-SIGN-dependent IL-27 production
Sonja I Gringhuis, Tanja M Kaptein, Brigitte A Wevers, et al.
Page
of 55
Search research articles
Search
Showing results (371-380 of 543) with videos related to
Sort By:
Page
of 55
Cellular and Molecular Life Sciences : CMLS
|
May 20, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Giovanni Bisello, Katarzyna Kusmierska, Marcel M Verbeek, et al.
NPJ Genomic Medicine
|
July 9, 2020
metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes
Emma J Graham Linck, Phillip A Richmond, Maja Tarailo-Graovac, et al.
Molecular Genetics and Metabolism
|
March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
Saikat Santra, Jessie M Cameron, Casper Shyr, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2012
Sjögren-Larsson syndrome in clinical practice
Joris Fuijkschot, Thomas Theelen, Marieke M B Seyger, et al.
Neurology
|
December 12, 2018
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start
Bianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, et al.
Human Mutation
|
January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value
R G Boot, C E Hollak, M Verhoek, et al.
Plos One
|
September 26, 2015
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Eveline J Langereis, Tom Wagemans, Wim Kulik, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2011
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Mailys Guillard, Yoshinao Wada, Hana Hansikova, et al.
The European Journal of Neuroscience
|
June 26, 1999
Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer's disease: histotopographical correlation with amyloid plaques and hyperphosphorylated-tau protein
A Wevers, L Monteggia, S Nowacki, et al.
Nature Communications
|
October 4, 2014
Fucose-based PAMPs prime dendritic cells for follicular T helper cell polarization via DC-SIGN-dependent IL-27 production
Sonja I Gringhuis, Tanja M Kaptein, Brigitte A Wevers, et al.
Page
of 55