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The European Journal of Neuroscience
|
August 3, 2002
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria
Stefan Kölker, Verena Pawlak, Barbara Ahlemeyer, et al.
Stem Cell Research
|
February 18, 2019
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
BMJ Case Reports
|
June 21, 2011
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
August 19, 2007
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene
O Y Al-Dirbashi, K K Abu-Amero, A F Alswaid, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
August 16, 2011
Estimating the SF-6D value set for a population-based sample of Brazilians
Luciane N Cruz, Suzi A Camey, Juliana F Hoffmann, et al.
Neurochemistry International
|
February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)
S W Sauer, S Kölker, G F Hoffmann, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Plos Neglected Tropical Diseases
|
February 18, 2021
Identifying and validating the presence of Guanine-Quadruplexes (G4) within the blood fluke parasite Schistosoma mansoni
Holly M Craven, Riccardo Bonsignore, Vasilis Lenis, et al.
Page
of 126
Search research articles
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Showing results (771-780 of 1,255) with videos related to
Sort By:
Page
of 126
The European Journal of Neuroscience
|
August 3, 2002
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria
Stefan Kölker, Verena Pawlak, Barbara Ahlemeyer, et al.
Stem Cell Research
|
February 18, 2019
Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A
Dominic Lenz, Christian Staufner, Selina Wächter, et al.
BMJ Case Reports
|
June 21, 2011
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease
|
August 19, 2007
LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene
O Y Al-Dirbashi, K K Abu-Amero, A F Alswaid, et al.
Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
|
August 16, 2011
Estimating the SF-6D value set for a population-based sample of Brazilians
Luciane N Cruz, Suzi A Camey, Juliana F Hoffmann, et al.
Neurochemistry International
|
February 17, 2007
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)
S W Sauer, S Kölker, G F Hoffmann, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
February 26, 2008
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy
S Bagci, J Zschocke, G F Hoffmann, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Sarah C Grünert, Sara Tucci, Anke Schumann, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 14, 2023
Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review
Sabine Specht, Irina Zhukova, Jens H Westhoff, et al.
Plos Neglected Tropical Diseases
|
February 18, 2021
Identifying and validating the presence of Guanine-Quadruplexes (G4) within the blood fluke parasite Schistosoma mansoni
Holly M Craven, Riccardo Bonsignore, Vasilis Lenis, et al.
Page
of 126