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Sian Ellard

Showing results (101-110 of 439) with videos related to

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The Journal of Clinical Endocrinology and Metabolism|November 29, 2013
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemiaVed Bhushan Arya, Sarah E Flanagan, Edith Schober, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 16, 2008
Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndromePaul J Murray, Katie Thomas, Christopher J Mulgrew, et al.
Diabetes Care|February 20, 2014
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohortAli J Chakera, Gill Spyer, Nicola Vincent, et al.
Acta Diabetologica|July 1, 2015
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technologyKarolina Antosik, Piotr Gnys, Elisa De Franco, et al.
Diabetes|July 1, 2008
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcriptsLorna W Harries, Melissa J Sloman, Elizabeth A C Sellers, et al.
Human Mutation|July 7, 2017
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemiaThomas W Laver, Michael N Weedon, Richard Caswell, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 23, 2017
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutationSonya Galcheva, Violeta Iotova, Sian Ellard, et al.
Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.
Indian Journal of Pediatrics|June 11, 2014
Fanconi-Bickel syndrome - mutation in SLC2A2 geneMohit Kehar, Sunita Bijarnia, Sian Ellard, et al.
Journal of the American Society of Nephrology : JASN|July 23, 2003
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney developmentSilvia Bohn, Heike Thomas, Gülüzar Turan, et al.
Pageof 44

Showing results (101-110 of 439) with videos related to

Sort By:
Pageof 44
The Journal of Clinical Endocrinology and Metabolism|November 29, 2013
Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemiaVed Bhushan Arya, Sarah E Flanagan, Edith Schober, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 16, 2008
Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndromePaul J Murray, Katie Thomas, Christopher J Mulgrew, et al.
Diabetes Care|February 20, 2014
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohortAli J Chakera, Gill Spyer, Nicola Vincent, et al.
Acta Diabetologica|July 1, 2015
Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technologyKarolina Antosik, Piotr Gnys, Elisa De Franco, et al.
Diabetes|July 1, 2008
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcriptsLorna W Harries, Melissa J Sloman, Elizabeth A C Sellers, et al.
Human Mutation|July 7, 2017
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemiaThomas W Laver, Michael N Weedon, Richard Caswell, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 23, 2017
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutationSonya Galcheva, Violeta Iotova, Sian Ellard, et al.
Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.
Indian Journal of Pediatrics|June 11, 2014
Fanconi-Bickel syndrome - mutation in SLC2A2 geneMohit Kehar, Sunita Bijarnia, Sian Ellard, et al.
Journal of the American Society of Nephrology : JASN|July 23, 2003
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney developmentSilvia Bohn, Heike Thomas, Gülüzar Turan, et al.
Pageof 44