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D Ravine

Showing results (21-30 of 41) with videos related to

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Gut|September 22, 2005
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patientsC A McCune, D Ravine, K Carter, et al.
Journal of Medical Genetics|September 13, 2005
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2A Saxena, D de Lagarde, H Leonard, et al.
British Journal of Haematology|September 1, 2001
HFE mutations, iron deficiency and overload in 10,500 blood donorsH A Jackson, K Carter, C Darke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
Population based study of late onset cerebellar ataxia in south east WalesM B Muzaimi, J Thomas, S Palmer-Smith, et al.
American Journal of Human Genetics|September 1, 1993
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosityG Chenevix-Trench, C Wicking, J Berkman, et al.
American Journal of Human Genetics|April 1, 1997
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26M Lagerström-Fermér, M Sundvall, E Johnsen, et al.
American Journal of Human Genetics|October 23, 1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneJ R Sampson, M M Maheshwar, R Aspinwall, et al.
Lancet (London, England)|February 19, 1999
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study GroupN Hateboer, M A v Dijk, N Bogdanova, et al.
Neurology|March 12, 2008
Investigating genotype-phenotype relationships in Rett syndrome using an international data setA Bebbington, A Anderson, D Ravine, et al.
Lancet (London, England)|November 28, 1992
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney diseaseD Ravine, R G Walker, R N Gibson, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
Gut|September 22, 2005
Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patientsC A McCune, D Ravine, K Carter, et al.
Journal of Medical Genetics|September 13, 2005
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2A Saxena, D de Lagarde, H Leonard, et al.
British Journal of Haematology|September 1, 2001
HFE mutations, iron deficiency and overload in 10,500 blood donorsH A Jackson, K Carter, C Darke, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
Population based study of late onset cerebellar ataxia in south east WalesM B Muzaimi, J Thomas, S Palmer-Smith, et al.
American Journal of Human Genetics|September 1, 1993
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosityG Chenevix-Trench, C Wicking, J Berkman, et al.
American Journal of Human Genetics|April 1, 1997
X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26M Lagerström-Fermér, M Sundvall, E Johnsen, et al.
American Journal of Human Genetics|October 23, 1997
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneJ R Sampson, M M Maheshwar, R Aspinwall, et al.
Lancet (London, England)|February 19, 1999
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study GroupN Hateboer, M A v Dijk, N Bogdanova, et al.
Neurology|March 12, 2008
Investigating genotype-phenotype relationships in Rett syndrome using an international data setA Bebbington, A Anderson, D Ravine, et al.
Lancet (London, England)|November 28, 1992
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney diseaseD Ravine, R G Walker, R N Gibson, et al.
Pageof 5