Showing results (1131-1140 of 7,173) with videos related to
Sort By:
Pageof 718
Clinical Genetics|July 31, 2007
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutationA Selicorni, S Russo, C Gervasini, et al.Clinical Genetics|June 2, 2007
Constitutive deficiency in DNA mismatch repairK E A Felton, D M Gilchrist, S E AndrewClinical Genetics|June 2, 2007
A genome-wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family StudyR T Acton, B M Snively, J C Barton, et al.Clinical Genetics|June 2, 2007
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3T L Hoffman, E Blanco, A Lane, et al.Clinical Genetics|May 2, 2007
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4R Claramunt, T Sevilla, V Lupo, et al.Clinical Genetics|May 2, 2007
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosisM Cukjati, S Koren, V Curin Serbec, et al.Clinical Genetics|May 11, 2007
An overview of isolated and syndromic oesophageal atresiaD Geneviève, L de Pontual, J Amiel, et al.Clinical Genetics|May 11, 2007
The Huntington's disease quality of life battery for carers: reliability and validityA Aubeeluck, H BuchananClinical Genetics|May 11, 2007
Newborn screening for mucopolysaccharidoses: opinions of patients and their familiesI M Hayes, V Collins, M Sahhar, et al.Clinical Genetics|March 1, 1991
Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiencyA R McPhaden, G D Birnie, K WhaleyPageof 718