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Human Mutation
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January 1, 1994
A single-base deletion mutation in a Turkish patient with fucosidosis
H C Seo, J Kunze, P J Willems, et al.
Clinical Genetics
|
August 1, 1994
Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
U C Franke, P J Scambler, C Löffler, et al.
Pediatric Research
|
September 1, 1994
Creatine deficiency in the brain: a new, treatable inborn error of metabolism
S Stöckler, U Holzbach, F Hanefeld, et al.
Epilepsia
|
December 1, 1995
Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivo
F Hanefeld, B Kruse, U Holzbach, et al.
Neuropediatrics
|
August 1, 1983
Cranial computed tomography of 64 children in continuous complete remission of leukemia II: relations to patient data and neurological complications
U Stephani, G Harten, H J Langermann, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
January 27, 1999
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
B Saul, T Kuner, D Sobetzko, et al.
Neurology
|
July 9, 2003
Chlamydia pneumoniae in children with MS: frequency and quantity of intrathecal antibodies
K Rostasy, H Reiber, D Pohl, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism
K M Gibson, L Sweetman, W L Nyhan, et al.
Journal of Computer Assisted Tomography
|
May 1, 1992
Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders
H Bruhn, B Kruse, G C Korenke, et al.
Klinische Padiatrie
|
January 1, 1993
[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]
B Lawrenz-Wolf, K P Herberg, G F Hoffmann, et al.
Page
of 20
Search research articles
Search
Showing results (151-160 of 197) with videos related to
Sort By:
Page
of 20
Human Mutation
|
January 1, 1994
A single-base deletion mutation in a Turkish patient with fucosidosis
H C Seo, J Kunze, P J Willems, et al.
Clinical Genetics
|
August 1, 1994
Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
U C Franke, P J Scambler, C Löffler, et al.
Pediatric Research
|
September 1, 1994
Creatine deficiency in the brain: a new, treatable inborn error of metabolism
S Stöckler, U Holzbach, F Hanefeld, et al.
Epilepsia
|
December 1, 1995
Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivo
F Hanefeld, B Kruse, U Holzbach, et al.
Neuropediatrics
|
August 1, 1983
Cranial computed tomography of 64 children in continuous complete remission of leukemia II: relations to patient data and neurological complications
U Stephani, G Harten, H J Langermann, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
January 27, 1999
Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
B Saul, T Kuner, D Sobetzko, et al.
Neurology
|
July 9, 2003
Chlamydia pneumoniae in children with MS: frequency and quantity of intrathecal antibodies
K Rostasy, H Reiber, D Pohl, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism
K M Gibson, L Sweetman, W L Nyhan, et al.
Journal of Computer Assisted Tomography
|
May 1, 1992
Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders
H Bruhn, B Kruse, G C Korenke, et al.
Klinische Padiatrie
|
January 1, 1993
[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]
B Lawrenz-Wolf, K P Herberg, G F Hoffmann, et al.
Page
of 20