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Clinical Genetics|June 28, 2007
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CFM Schneider, C Hirt, C Casaulta, et al.Neurology|August 24, 2005
Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementP Maciel, V T Cruz, M Constante, et al.Neuromuscular Disorders : NMD|August 6, 2003
X-inactivation patterns in carriers of X-linked myotubular myopathyM Kristiansen, G P Knudsen, S M Tanner, et al.American Journal of Medical Genetics. Part A|July 9, 2011
Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethalityA Nicoulaz, F Rubi, L Lieder, et al.Journal of Neurology|February 13, 2007
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological featuresW M M Schüpbach, K Madhavi Vadday, A Schaller, et al.European Journal of Pediatrics|November 14, 2015
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephalyC B Jackson, M F Bauer, A Schaller, et al.Journal of Medical Genetics|January 8, 2008
Diversity of the basic defect of homozygous CFTR mutation genotypes in humansF Stanke, M Ballmann, I Bronsveld, et al.Pageof 2