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M J Coll

Showing results (31-40 of 43) with videos related to

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Clinical Genetics|August 16, 2005
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlationsE M Fernandez-Valero, A Ballart, C Iturriaga, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|March 25, 2008
[Alpha-mannosidosis]F M Pérez Fernández, R Camino-León, E López Laso, et al.
Pediatric Dermatology|October 23, 1997
Ichthyosis: the skin manifestation of multiple sulfatase deficiencyE Castaño Suárez, A Segurado Rodríguez, A Guerra Tapia, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molybdenum cofactor deficiency associated with Dandy-Walker malformationG Pintos-Morell, M A Naranjo, M Artigas, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|September 10, 2010
[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes]P Quijada Fraile, E Martín Hernández, A Martínez de Aragón, et al.
Molecular Genetics and Metabolism|November 14, 2000
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type IC Busquets, M Soriano, I T de Almeida, et al.
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.
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.
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.
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Clinical Genetics|August 16, 2005
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlationsE M Fernandez-Valero, A Ballart, C Iturriaga, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|March 25, 2008
[Alpha-mannosidosis]F M Pérez Fernández, R Camino-León, E López Laso, et al.
Pediatric Dermatology|October 23, 1997
Ichthyosis: the skin manifestation of multiple sulfatase deficiencyE Castaño Suárez, A Segurado Rodríguez, A Guerra Tapia, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molybdenum cofactor deficiency associated with Dandy-Walker malformationG Pintos-Morell, M A Naranjo, M Artigas, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|September 10, 2010
[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes]P Quijada Fraile, E Martín Hernández, A Martínez de Aragón, et al.
Molecular Genetics and Metabolism|November 14, 2000
Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type IC Busquets, M Soriano, I T de Almeida, et al.
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.
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.
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.
Journal of Medical Genetics|June 1, 1996
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeJ L Keulemans, A J Reuser, M A Kroos, et al.
Pageof 5