Search research articles
Contact Us
Filters
Showing results (171-180 of 197) with videos related to
Page
of 20
Sort By:
Human Genetics
|
November 3, 1998
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
T Tvrdik, S Marcus, S M Hou, et al.
Annals of Neurology
|
August 1, 1992
Multiple sclerosis in children: cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo
H Bruhn, J Frahm, K D Merboldt, et al.
Pediatric Neurology
|
September 1, 1996
Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients
G C Korenke, P J Pouwels, J Frahm, et al.
Journal of the Neurological Sciences
|
June 10, 1998
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation
E Wilichowski, G C Korenke, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia
G F Hoffmann, D H Hunneman, C Jakobs, et al.
Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association
|
January 1, 1983
Electroencephalogram investigations of the disequilibrium syndrome during bicarbonate and acetate dialysis
H Hampl, H W Klopp, N Michels, et al.
Nephrologie
|
January 1, 1983
[Electro-encephalographic study of the disequilibrium syndrome during bicarbonate dialysis and acetate dialysis]
H Hampl, H W Klopp, N Michels, et al.
Annals of Neurology
|
May 19, 2001
Presence of Chlamydia pneumoniae DNA in the cerebral spinal fluid is a common phenomenon in a variety of neurological diseases and not restricted to multiple sclerosis
J Gieffers, D Pohl, J Treib, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides
R B Pour, S Stöckler-Ipsiroglu, D H Hunneman, et al.
Human Molecular Genetics
|
November 1, 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
T Martinsson, C Bjursell, H Stibler, et al.
Page
of 20
Search research articles
Search
Showing results (171-180 of 197) with videos related to
Sort By:
Page
of 20
Human Genetics
|
November 3, 1998
Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
T Tvrdik, S Marcus, S M Hou, et al.
Annals of Neurology
|
August 1, 1992
Multiple sclerosis in children: cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo
H Bruhn, J Frahm, K D Merboldt, et al.
Pediatric Neurology
|
September 1, 1996
Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients
G C Korenke, P J Pouwels, J Frahm, et al.
Journal of the Neurological Sciences
|
June 10, 1998
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation
E Wilichowski, G C Korenke, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia
G F Hoffmann, D H Hunneman, C Jakobs, et al.
Proceedings of the European Dialysis and Transplant Association. European Dialysis and Transplant Association
|
January 1, 1983
Electroencephalogram investigations of the disequilibrium syndrome during bicarbonate and acetate dialysis
H Hampl, H W Klopp, N Michels, et al.
Nephrologie
|
January 1, 1983
[Electro-encephalographic study of the disequilibrium syndrome during bicarbonate dialysis and acetate dialysis]
H Hampl, H W Klopp, N Michels, et al.
Annals of Neurology
|
May 19, 2001
Presence of Chlamydia pneumoniae DNA in the cerebral spinal fluid is a common phenomenon in a variety of neurological diseases and not restricted to multiple sclerosis
J Gieffers, D Pohl, J Treib, et al.
Journal of Inherited Metabolic Disease
|
May 9, 2000
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides
R B Pour, S Stöckler-Ipsiroglu, D H Hunneman, et al.
Human Molecular Genetics
|
November 1, 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
T Martinsson, C Bjursell, H Stibler, et al.
Page
of 20