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The New England Journal of Medicine
|
November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilization
Peter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
Molecular Psychiatry
|
February 11, 2015
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
J J Luykx, S C Bakker, W F Visser, et al.
Brain Communications
|
September 21, 2023
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome
Arthur W D Edridge, Gasim Abd-Elfarag, Martin Deijs, et al.
The Journal of Clinical Investigation
|
February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
Hannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
American Journal of Hematology
|
July 4, 2026
Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children
Sigrid van der Veen, Bart J Biemond, Marjon H Cnossen, et al.
Human Molecular Genetics
|
September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
Lynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
Nature Communications
|
April 2, 2019
Identification of human D lactate dehydrogenase deficiency
Glen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Page
of 15
Search research articles
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Showing results (131-140 of 142) with videos related to
Sort By:
Page
of 15
The New England Journal of Medicine
|
November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilization
Peter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
Molecular Psychiatry
|
February 11, 2015
Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma
J J Luykx, S C Bakker, W F Visser, et al.
Brain Communications
|
September 21, 2023
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome
Arthur W D Edridge, Gasim Abd-Elfarag, Martin Deijs, et al.
The Journal of Clinical Investigation
|
February 14, 2017
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Noa Lipstein, Nanda M Verhoeven-Duif, Francesco E Michelassi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements
Hannah M German, Maha S Zaki, Muhammad A Usmani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 14, 2020
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Shereen G Ghosh, Sangmoon Lee, Rudy Fabunan, et al.
American Journal of Hematology
|
July 4, 2026
Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children
Sigrid van der Veen, Bart J Biemond, Marjon H Cnossen, et al.
Human Molecular Genetics
|
September 22, 2018
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay
Lynne Rumping, Federico Tessadori, Petra J W Pouwels, et al.
Nature Communications
|
April 2, 2019
Identification of human D lactate dehydrogenase deficiency
Glen R Monroe, Albertien M van Eerde, Federico Tessadori, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2020
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
Curtis R Coughlin, Laura A Tseng, Jose E Abdenur, et al.
Page
of 15