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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 10, 2001
[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes]D Graber, C Antignac, G Deschenes, et al.
Biochemical and Biophysical Research Communications|March 7, 1996
Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chainM A Birch-Machin, C Marsac, G Ponsot, et al.
American Journal of Medical Genetics|March 1, 1992
Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)L Telvi, M Folhen, O Raoul, et al.
Journal of Inherited Metabolic Disease|March 1, 1997
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissuesF Degoul, D François, M Diry, et al.
Journal of the Peripheral Nervous System : JPNS|August 26, 2000
Congenital insensitivity to pain with anhydrosis. Report of two unrelated casesA Vital, D Fontan, J Julien, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 1, 1988
Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosisB Boutin, M C Routon, F Rocchiccioli, et al.
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