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Journal of Medical Genetics|November 10, 2000
Desmin splice variants causing cardiac and skeletal myopathyK Y Park, M C Dalakas, H H Goebel, et al.Annals of Neurology|February 5, 1998
Localization of the giant axonal neuropathy gene to chromosome 16q24K M Flanigan, T O Crawford, J W Griffin, et al.Acta Neuropathologica|January 1, 1987
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorderA Bardosi, W Creutzfeldt, S DiMauro, et al.Deutsche Medizinische Wochenschrift (1946)|May 29, 1981
[Myoglobinuric renal failure in hyperosmolar diabetic coma (author's transl)]K W Rumpf, H Kaiser, H J Gröne, et al.Neuropediatrics|February 1, 1994
Intracranial germ cell tumors: a comprehensive update of the European dataG Calaminus, M Bamberg, M C Baranzelli, et al.Journal of the Neurological Sciences|January 1, 1997
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblingsE Hund, A Grau, W Fogel, et al.Journal of Medical Genetics|August 1, 1984
The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfectaA C Nicholls, G Osse, H G Schloon, et al.Neuromuscular Disorders : NMD|July 16, 2002
A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian populationM Gross, E Rötzer, P Kölle, et al.Lancet (London, England)|July 21, 2000
End-of-life decisions in neonatal intensive care: physicians' self-reported practices in seven European countries. EURONIC Study GroupM Cuttini, M Nadai, M Kaminski, et al.Neurology|June 20, 1998
SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia onlyJ K Mellies, T Bäumer, J A Müller, et al.Pageof 33