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S Ellard

Showing results (111-120 of 144) with videos related to

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Diabetic Medicine : a Journal of the British Diabetic Association|May 17, 2011
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetesE L Edghill, A Khamis, M N Weedon, et al.
European Journal of Endocrinology|December 9, 2010
Novel GLIS3 mutations demonstrate an extended multisystem phenotypeP Dimitri, J T Warner, J A L Minton, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 26, 2000
Phase I study of ONO-4007, a synthetic analogue of the lipid A moiety of bacterial lipopolysaccharideJ S de Bono, A G Dalgleish, J Carmichael, et al.
European Journal of Endocrinology|March 8, 2011
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinismI Banerjee, M Skae, S E Flanagan, et al.
Human Molecular Genetics|October 9, 2001
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the youngH Thomas, K Jaschkowitz, M Bulman, et al.
American Journal of Human Genetics|November 22, 2000
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney diseaseC Bingham, M P Bulman, S Ellard, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|January 17, 2013
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiencyE De Franco, C Shaw-Smith, S E Flanagan, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 16, 2010
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)J Grulich-Henn, V Wagner, A Thon, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|November 3, 2007
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancyM Wabitsch, G Lahr, M Van de Bunt, et al.
Diabetologia|June 18, 2013
Improved genetic testing for monogenic diabetes using targeted next-generation sequencingS Ellard, H Lango Allen, E De Franco, et al.
Pageof 15

Showing results (111-120 of 144) with videos related to

Sort By:
Pageof 15
Diabetic Medicine : a Journal of the British Diabetic Association|May 17, 2011
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetesE L Edghill, A Khamis, M N Weedon, et al.
European Journal of Endocrinology|December 9, 2010
Novel GLIS3 mutations demonstrate an extended multisystem phenotypeP Dimitri, J T Warner, J A L Minton, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 26, 2000
Phase I study of ONO-4007, a synthetic analogue of the lipid A moiety of bacterial lipopolysaccharideJ S de Bono, A G Dalgleish, J Carmichael, et al.
European Journal of Endocrinology|March 8, 2011
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinismI Banerjee, M Skae, S E Flanagan, et al.
Human Molecular Genetics|October 9, 2001
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the youngH Thomas, K Jaschkowitz, M Bulman, et al.
American Journal of Human Genetics|November 22, 2000
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney diseaseC Bingham, M P Bulman, S Ellard, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|January 17, 2013
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiencyE De Franco, C Shaw-Smith, S E Flanagan, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|June 16, 2010
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)J Grulich-Henn, V Wagner, A Thon, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|November 3, 2007
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancyM Wabitsch, G Lahr, M Van de Bunt, et al.
Diabetologia|June 18, 2013
Improved genetic testing for monogenic diabetes using targeted next-generation sequencingS Ellard, H Lango Allen, E De Franco, et al.
Pageof 15