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Clinical Genetics|September 3, 2011
Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeS Sheikhzadeh, C Kade, B Keyser, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.Neurology|July 21, 2006
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, et al.Human Genetics|June 1, 1996
Geographic distribution and origin of CFTR mutations in GermanyB Tümmler, T Storrs, V Dziadek, et al.Molecular Syndromology|May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsM Alders, A Mendola, L Adès, et al.American Journal of Human Genetics|June 19, 1998
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypesJ C Stephens, D E Reich, D B Goldstein, et al.American Journal of Human Genetics|December 12, 2000
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and IIIH J Lüdecke, J Schaper, P Meinecke, et al.Journal of Neurology|December 14, 2004
Escalating immunotherapy of multiple sclerosis--new aspects and practical applicationP Rieckmann, K V Toyka, C Bassetti, et al.Pageof 33