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Human Molecular Genetics|July 1, 1996
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-waveU Lenk, K Oexle, T Voit, et al.Optics Letters|October 3, 2009
Diffractive beam splitter for laser Doppler velocimetryJ Schmidt, R Völkel, W Stork, et al.American Journal of Medical Genetics|May 3, 1996
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalismR D Cohn, G Gillessen-Kaesbach, W B Dobyns, et al.Human Molecular Genetics|January 4, 2001
Autosomal dominant transmission of GLUT1 deficiencyJ Klepper, M Willemsen, A Verrips, et al.Neuropediatrics|June 24, 2010
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1J Schessl, A Columbus, Y Hu, et al.Acta Neurochirurgica. Supplementum|January 1, 1988
Magnetic resonance (MR) imaging in the management of primary and secondary syringomyelic cavities, and of other cystic lesions of the spinal cordN Roosen, P Dahlhaus, C B Lumenta, et al.Pediatric Radiology|January 1, 1992
Therapeutic use of surfactant in neonatal respiratory distress syndrome. Correlation between pulmonary X-ray changes and clinical dataU Bick, C Müller-Leisse, J Tröger, et al.Neuropediatrics|September 26, 2001
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathyH H Goebel, L E Halbig, L Goldfarb, et al.Neuropediatrics|May 8, 2008
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)A Koy, B Ilkovski, N Laing, et al.Acta Paediatrica (Oslo, Norway : 1992)|January 1, 1994
Multisystem triglyceride storage disorder without ichthyosis in two siblingsR Wessalowski, H Schroten, E Neuen-Jacob, et al.Pageof 18