Showing results (191-200 of 6,483) with videos related to
Sort By:
Pageof 649
Journal of Medical Genetics|September 12, 2006
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1E Rajcan-Separovic, C Harvard, X Liu, et al.Journal of Medical Genetics|September 12, 2006
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndromeNadine Schönherr, Esther Meyer, Andreas Roos, et al.Journal of Medical Genetics|August 4, 2006
Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 geneC Law, D Bunyan, B Castle, et al.Journal of Medical Genetics|April 4, 2006
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignanciesE Rudd, K Göransdotter Ericson, C Zheng, et al.Journal of Medical Genetics|March 1, 2006
Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infectionR Dawes, B Hennig, W Irving, et al.Journal of Medical Genetics|December 14, 2007
Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis associationL L E Koskinen, I R Korponay-Szabo, K Viiri, et al.Journal of Medical Genetics|March 10, 2006
Highly significant linkage to chromosome 3q13.31 for rhinitis and related allergic diseasesC Brasch-Andersen, A Haagerup, A D Børglum, et al.Journal of Medical Genetics|December 7, 2007
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutationK Craig, H R Elliott, S M Keers, et al.Journal of Medical Genetics|December 7, 2007
Molecular characterisation of a common SDHB deletion in paraganglioma patientsA Cascón, I Landa, E López-Jiménez, et al.Journal of Medical Genetics|December 7, 2007
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changesD Z Loesch, M Cook, L Litewka, et al.Pageof 649