Showing results (181-190 of 203) with videos related to

Sort By:
Pageof 21
Clinical Genetics|September 10, 2010
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant allelesI Canals, S C Elalaoui, M Pineda, et al.
Genes, Brain, and Behavior|October 15, 2013
Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndromeA Blanco-Grau, I Bonaventura-Ibars, J Coll-Cantí, et al.
Revista De Neurologia|March 26, 2003
[Chloroquine-induced myopathy and neuropathy: progressive tetraparesis with areflexia that simulates a polyradiculoneuropathy. Two case reports]J L Becerra-Cuñat, J Coll-Cantí, E Gelpí-Mantius, et al.
Clinical Genetics|January 26, 2008
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian PeninsulaM Mangas, C Nogueira, M J Prata, et al.
HIV Medicine|March 23, 2012
Condylomata, cytological abnormalities and human papillomavirus infection in the anal canal in HIV-infected menL Darwich, M P Cañadas, S Videla, et al.
Molecular Genetics and Metabolism|June 25, 2016
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical reviewMarie T Vanier, Paul Gissen, Peter Bauer, et al.
Computing in Cardiology|March 23, 2019
Effects of ECG Signal Processing on the Inverse Problem of ElectrocardiographyLaura R Bear, Y Serinagaoglu Dogrusoz, J Svehlikova, et al.
HIV Medicine|September 17, 2013
BCN Checkpoint, a community-based centre for men who have sex with men in Barcelona, Catalonia, Spain, shows high efficiency in HIV detection and linkage to careM Meulbroek, E Ditzel, J Saz, et al.
Revista De Neurologia|July 2, 2008
[Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile]J López-Pisón, R Pérez-Delgado, A García-Oguiza, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 16, 1998
A dysfunctional desmin mutation in a patient with severe generalized myopathyA M Muñoz-Mármol, G Strasser, M Isamat, et al.
Pageof 21