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Neurology|August 1, 1993
Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain)A López de Munain, A Blanco, J I Emparanza, et al.Genes, Brain, and Behavior|July 13, 2010
A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depressionE Saus, V Soria, G Escaramís, et al.American Journal of Medical Genetics|November 11, 1996
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeatsM Gennarelli, G Novelli, F Andreasi Bassi, et al.Clinical Genetics|January 26, 2013
PLP1 gene analysis in 88 patients with leukodystrophyP Martínez-Montero, M Muñoz-Calero, E Vallespín, et al.Scientific Reports|February 27, 2013
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasP Sarrión, A Sangorrin, R Urreizti, et al.Journal of Thrombosis and Haemostasis : JTH|August 24, 2017
Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNAL Martorell, E Luce, J L Vazquez, et al.Neuromuscular Disorders : NMD|June 16, 2019
Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type IIA L Frongia, D Natera-de Benito, C Ortez, et al.Molecular Psychiatry|June 17, 2009
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophreniaB Rodríguez-Santiago, A Brunet, B Sobrino, et al.Journal of Medical Genetics|June 21, 2015
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneityR Bachmann-Gagescu, J C Dempsey, I G Phelps, et al.Neurologia|April 21, 2019
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's diseaseG Gutiérrez Gutiérrez, J Díaz-Manera, M Almendrote, et al.Pageof 6