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Sian Ellard

Showing results (61-70 of 439) with videos related to

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The Turkish Journal of Pediatrics|March 1, 2014
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectraEnver Şimşek, Çiğdem Binay, Sarah E Flanagan, et al.
Pediatric Diabetes|October 11, 2011
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of lifeOscar Rubio-Cabezas, Sarah E Flanagan, Annet Damhuis, et al.
Human Genetics|September 1, 2005
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decayL W Harries, Coralie Bingham, Christine Bellanne-Chantelot, et al.
Swiss Medical Weekly|August 2, 2005
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investmentSabine Schnyder, Primus E Mullis, Sian Ellard, et al.
Human Mutation|January 26, 2013
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemiaKevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, et al.
Frontiers in Endocrinology|June 2, 2012
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic HypoglycemiaS E Flanagan, R R Kapoor, V V Smith, et al.
Diabetes Care|December 22, 2017
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular Defects. Diabetes Care 2017;40:1436-1443Rhian L Clissold, Lorna W Harries, Sian Ellard, et al.
Lijecnicki Vjesnik|June 15, 2010
[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]Jasenka Ille, Natasa Rojnić Putarek, Ana Radica, et al.
Nature Reviews. Nephrology|December 24, 2014
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrumRhian L Clissold, Alexander J Hamilton, Andrew T Hattersley, et al.
The Journal of Clinical Endocrinology and Metabolism|May 7, 2009
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivityRitika R Kapoor, Chela James, Sarah E Flanagan, et al.
Pageof 44

Showing results (61-70 of 439) with videos related to

Sort By:
Pageof 44
The Turkish Journal of Pediatrics|March 1, 2014
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectraEnver Şimşek, Çiğdem Binay, Sarah E Flanagan, et al.
Pediatric Diabetes|October 11, 2011
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of lifeOscar Rubio-Cabezas, Sarah E Flanagan, Annet Damhuis, et al.
Human Genetics|September 1, 2005
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decayL W Harries, Coralie Bingham, Christine Bellanne-Chantelot, et al.
Swiss Medical Weekly|August 2, 2005
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investmentSabine Schnyder, Primus E Mullis, Sian Ellard, et al.
Human Mutation|January 26, 2013
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemiaKevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, et al.
Frontiers in Endocrinology|June 2, 2012
Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic HypoglycemiaS E Flanagan, R R Kapoor, V V Smith, et al.
Diabetes Care|December 22, 2017
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (<i>HNF1B</i>) Molecular Defects. Diabetes Care 2017;40:1436-1443Rhian L Clissold, Lorna W Harries, Sian Ellard, et al.
Lijecnicki Vjesnik|June 15, 2010
[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]Jasenka Ille, Natasa Rojnić Putarek, Ana Radica, et al.
Nature Reviews. Nephrology|December 24, 2014
HNF1B-associated renal and extra-renal disease-an expanding clinical spectrumRhian L Clissold, Alexander J Hamilton, Andrew T Hattersley, et al.
The Journal of Clinical Endocrinology and Metabolism|May 7, 2009
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivityRitika R Kapoor, Chela James, Sarah E Flanagan, et al.
Pageof 44