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American Journal of Human Genetics|June 5, 2001
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levelsC Walter, J Gootjes, P A Mooijer, et al.
American Journal of Human Genetics|January 1, 1995
Spectrum of mutations in the gene encoding the adrenoleukodystrophy proteinM J Ligtenberg, S Kemp, C O Sarde, et al.
Neurology|March 29, 2006
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctataA M Bams-Mengerink, C B L M Majoie, M Duran, et al.
Biochimica Et Biophysica Acta|April 24, 1995
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathyL G Nijtmans, P G Barth, C R Lincke, et al.
American Journal of Mental Retardation : AJMR|June 9, 2005
Etiology of mental retardation in children referred to a tertiary care center: a prospective studyClara D M van Karnebeek, Frederike Y Scheper, Nico G Abeling, et al.
Biochemical and Biophysical Research Communications|July 29, 1994
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsS Kemp, M J Ligtenberg, B M van Geel, et al.
Journal of Lipid Research|April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosisFredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.
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