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Journal of Inherited Metabolic Disease
|
January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
G F Hoffmann, B Schmitt, M Windfuhr, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|
November 5, 2023
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders
Menno D Stellingwerff, Murtadha L Al-Saady, Kwok-Shing Chan, et al.
Brain : a Journal of Neurology
|
August 16, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Shanice Beerepoot, Hans Heijst, Birthe Roos, et al.
Parkinsonism & Related Disorders
|
October 26, 2017
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
E R Timmers, A Kuiper, M Smit, et al.
Neurology
|
January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
F Mochel, U F H Engelke, J Barritault, et al.
Human Mutation
|
May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
Lieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Neurology
|
April 18, 2018
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants
Eline M C Hamilton, Pinar Tekturk, Fia Cialdella, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
March 25, 2017
Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes
Ingo Janssen, Clara C Chen, Zhenping Zhuang, et al.
Neuropediatrics
|
November 5, 2015
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes
Laura A van de Pol, Nicole I Wolf, Mirjam M van Weissenbruch, et al.
Nature Microbiology
|
May 31, 2017
Discovery of extremely halophilic, methyl-reducing euryarchaea provides insights into the evolutionary origin of methanogenesis
Dimitry Y Sorokin, Kira S Makarova, Ben Abbas, et al.
Page
of 90
Search research articles
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Showing results (741-750 of 898) with videos related to
Sort By:
Page
of 90
Journal of Inherited Metabolic Disease
|
January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
G F Hoffmann, B Schmitt, M Windfuhr, et al.
Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging
|
November 5, 2023
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders
Menno D Stellingwerff, Murtadha L Al-Saady, Kwok-Shing Chan, et al.
Brain : a Journal of Neurology
|
August 16, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Shanice Beerepoot, Hans Heijst, Birthe Roos, et al.
Parkinsonism & Related Disorders
|
October 26, 2017
Non-motor symptoms and quality of life in dopa-responsive dystonia patients
E R Timmers, A Kuiper, M Smit, et al.
Neurology
|
January 27, 2010
Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
F Mochel, U F H Engelke, J Barritault, et al.
Human Mutation
|
May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
Lieve Claes, Berten Ceulemans, Dominique Audenaert, et al.
Neurology
|
April 18, 2018
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants
Eline M C Hamilton, Pinar Tekturk, Fia Cialdella, et al.
Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine
|
March 25, 2017
Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes
Ingo Janssen, Clara C Chen, Zhenping Zhuang, et al.
Neuropediatrics
|
November 5, 2015
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes
Laura A van de Pol, Nicole I Wolf, Mirjam M van Weissenbruch, et al.
Nature Microbiology
|
May 31, 2017
Discovery of extremely halophilic, methyl-reducing euryarchaea provides insights into the evolutionary origin of methanogenesis
Dimitry Y Sorokin, Kira S Makarova, Ben Abbas, et al.
Page
of 90