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Molecular Syndromology|July 22, 2010
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic StrategiesB Pawlik, A Mir, H Iqbal, et al.Cardiovascular Research|October 31, 2001
hKChIP2 is a functional modifier of hKv4.3 potassium channels: cloning and expression of a short hKChIP2 splice variantN Decher, O Uyguner, C R Scherer, et al.The British Journal of Ophthalmology|October 27, 2007
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 geneY Kaplan, I Vargel, T Kansu, et al.Clinical Genetics|October 10, 2002
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish familyO Uyguner, T Tukel, C Baykal, et al.Journal of the American College of Cardiology|August 14, 2001
Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathyJ Erdmann, J Raible, J Maki-Abadi, et al.Clinical Genetics|February 21, 2007
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3O Uyguner, H Kayserili, Y Li, et al.Fetal Diagnosis and Therapy|June 12, 2004
The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetusesS Basaran, A Engur, M Aytan, et al.Journal of Inherited Metabolic Disease|July 23, 2003
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrationsO Uyguner, E Goicoechea de Jorge, A Cefle, et al.Journal of Medical Genetics|May 3, 2005
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qterT Tukel, A Uzumcu, A Gezer, et al.Journal of the Neurological Sciences|May 30, 2006
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndromeZ O Uyguner, A Siva, H Kayserili, et al.Pageof 4