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Human Genetics|October 1, 1996
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansionM Milà, S Castellví-Bel, R Giné, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 1, 1997
Maternal transmission in sporadic Huntington's diseaseA Sánchez, M Milà, S Castellví-Bel, et al.Molecular and Cellular Probes|May 9, 2000
Rare variants in the promoter of the fragile X syndrome gene (FMR1)M Milà, S Castellví-Bel, A Sánchez, et al.Kidney International|April 14, 1999
Mutational analysis within the 3' region of the PKD1 geneC Badenas, R Torra, J L San Millán, et al.Revista Espanola De Medicina Nuclear E Imagen Molecular|February 11, 2017
Acute pulmonary embolism detection with ventilation/perfusion SPECT combined with full dose CT: What is the best option?M Milà, J Bechini, A Vázquez, et al.Journal of Medical Genetics|August 1, 1994
Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)S Castellví-Bel, T Matilla, M I Banchs, et al.Human Mutation|April 13, 1999
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. OnlineJ Mallolas, J Campistol, N Lambruschini, et al.Human Genetics|December 22, 1999
Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlationJ Mallolas, M A Vilaseca, J Campistol, et al.Journal of Neurology, Neurosurgery, and Psychiatry|November 24, 1999
Dentatorubropallidoluysian atrophy in a spanish family: a clinical, radiological, pathological, and genetic studyE Muñoz, M Milà, A Sánchez, et al.Molecular Neurobiology|October 25, 2016
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTASM I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, et al.Pageof 7