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Neuropediatrics
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September 13, 2006
Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system
S Pillen, E Morava, M Van Keimpema, et al.
Analytical Biochemistry
|
October 25, 2001
Development of an androgen reporter gene assay (AR-LUX) utilizing a human cell line with an endogenously regulated androgen receptor
B M Blankvoort, E M de Groene, A P van Meeteren-Kreikamp, et al.
Brain & Development
|
March 11, 2008
MR spectroscopy of the brain in Leigh syndrome
P E Sijens, G P A Smit, L A Rödiger, et al.
Journal of Inherited Metabolic Disease
|
June 9, 2009
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
D Haas, P Niklowitz, F Hörster, et al.
Molecular Syndromology
|
November 1, 2012
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
K Joost, R J Rodenburg, A Piirsoo, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note
M C de Vries, R J Rodenburg, E Morava, et al.
Journal of Leukocyte Biology
|
May 15, 1998
Expression of macrophage-derived chemokine (MDC) mRNA in macrophages is enhanced by interleukin-1beta, tumor necrosis factor alpha, and lipopolysaccharide
R J Rodenburg, R F Brinkhuis, R Peek, et al.
Mutation Research
|
May 1, 1992
Gene amplification in a human osteosarcoma cell line results in the persistence of the original chromosome and the formation of translocation chromosomes
H Roelofs, J G Tasseron-de Jong, J van der Wal-Aker, et al.
JIMD Reports
|
July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
Shanti Balasubramaniam, B Lewis, D M Mock, et al.
Journal of Human Genetics
|
April 6, 2018
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation
J Gödiker, M Grüneberg, I DuChesne, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 34) with videos related to
Sort By:
Page
of 4
Neuropediatrics
|
September 13, 2006
Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system
S Pillen, E Morava, M Van Keimpema, et al.
Analytical Biochemistry
|
October 25, 2001
Development of an androgen reporter gene assay (AR-LUX) utilizing a human cell line with an endogenously regulated androgen receptor
B M Blankvoort, E M de Groene, A P van Meeteren-Kreikamp, et al.
Brain & Development
|
March 11, 2008
MR spectroscopy of the brain in Leigh syndrome
P E Sijens, G P A Smit, L A Rödiger, et al.
Journal of Inherited Metabolic Disease
|
June 9, 2009
Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria
D Haas, P Niklowitz, F Hörster, et al.
Molecular Syndromology
|
November 1, 2012
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
K Joost, R J Rodenburg, A Piirsoo, et al.
Journal of Inherited Metabolic Disease
|
May 27, 2008
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note
M C de Vries, R J Rodenburg, E Morava, et al.
Journal of Leukocyte Biology
|
May 15, 1998
Expression of macrophage-derived chemokine (MDC) mRNA in macrophages is enhanced by interleukin-1beta, tumor necrosis factor alpha, and lipopolysaccharide
R J Rodenburg, R F Brinkhuis, R Peek, et al.
Mutation Research
|
May 1, 1992
Gene amplification in a human osteosarcoma cell line results in the persistence of the original chromosome and the formation of translocation chromosomes
H Roelofs, J G Tasseron-de Jong, J van der Wal-Aker, et al.
JIMD Reports
|
July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)
Shanti Balasubramaniam, B Lewis, D M Mock, et al.
Journal of Human Genetics
|
April 6, 2018
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation
J Gödiker, M Grüneberg, I DuChesne, et al.
Page
of 4