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Pediatria Polska|July 1, 1996
[Jaeken's (CDG) syndrome in two sisters]A T Midro, F Hanefeld, B Zadrozna-Tołwińska, et al.
Clinical Genetics|August 1, 1994
Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysisU 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 metabolismS Stöckler, U Holzbach, F Hanefeld, et al.
Epilepsia|December 1, 1995
Hemimegalencephaly: localized proton magnetic resonance spectroscopy in vivoF Hanefeld, B Kruse, U Holzbach, 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 gatingB Saul, T Kuner, D Sobetzko, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolismK 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 disordersH Bruhn, B Kruse, G C Korenke, et al.
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